OMIA 001081-9615 : Muscular dystrophy, Duchenne type in Canis lupus familiaris

In other species: domestic cat , pig

Possibly relevant human trait(s) and/or gene(s) (MIM number): 310200

Mendelian trait/disorder: yes

Mode of inheritance: X-linked recessive

Considered a defect: yes

Key variant known: yes

Year key variant first reported: 1992

Species-specific name: X-linked muscular dystrophy; Dystrophin-deficient muscular dystrophy

Species-specific symbol: DD-MD

Species-specific description: Also known as Golden Retriever Muscular Dystrophy (GRMD).

This is the canine homologue of human Duchenne muscular dystrophy, which is caused by mutations in the dystrophin gene and is characterized by progressive weakness and muscle wasting that is ultimately fatal. Clinical signs begin at 8-10 weeks of age. Absence of the dystrophin protein causes sarcolemma dysfunction, muscular hypercontraction, and ultimately, muscle fiber degeneration. The mode of inheritance is X-linked recessive. Genetic tests are available.

Edited by Meg Sleeper, VMD and Vicki N. Meyers-Wallen, VMD, PhD, Dipl. ACT

History: The first identified case of canine muscular dystrophy was in a Golden Retriever in 1958 (Shelton et al., 2004). The first causative mutation for this disorder in dogs, reported by Sharp et al., (1992, Genomics), was the result of cloning and sequencing a very likely comparative candidate gene (based on the same disorder in humans), namely the DMD gene.

Inheritance: Carrier females usually do not show clinical signs. However, due to random X inactivation, they can occasionally present with limb weakness and highly elevated serum creatine kinase, or show changes on electromyography or biopsy (Shelton et al., 2004; Kornegay et al., 2011).

Mapping: CFX

Molecular basis: All causative mutations occur within the dystrophin gene, although the molecular basis of the dystrophin mutation may be different between breeds. In the Golden Retriever, there is a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped during mRNA processing. The amino acid frame shift causes premature termination of the dystrophin protein (Sharp et al., 1992; Bartlett at al., 1996; Howell et al., 1997).

As reported by Kornegay et al. (2012), a causal "nonsense mutation in exon 58" was reported in Rottweilers by Winand et al. (1994).

In two affected German short-haired pointers, Schatzberg et al. (1999) discovered a "deletion encompassing the entire dystrophin [DMD] gene". VanBelzen et al. (2017) provided a detailed characterisation of this deletion.

In the Cavalier King Charles Spaniel, Walmsley et al. (2010) reported "a missense mutation in the 5′ donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein".

In Corgis, Smith et al. (2011) reported "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" as another causal mutation.

As well as reviewing past discoveries, Kornegay et al. (2012) reported that they had "identified three additional DMD gene mutations in the Cocker spaniel (deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion), Tibetan terrier (a large deletion of exons 8-29), and Labrador retriever (184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion) (Larsen CA et al, unpublished). The Labrador retriever mutation presumably corresponds to one in an earlier [abstract] report (Smith et al 2007)".

Atencia-Fernandez et al. (2015) reported the first causal inversion in a family of Japanese Spitz dogs: "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene".

Jenkins and Forman (2015) reported a 1bp deletion in exon 22 (chr CFAX: 27,606,021; CanFam3); c.3084delG; p.Gly1029AspfsX30 [GenBank:NM001003343] in a Norfolk Terrier.

Nghiem et al. (2016) reported "a 7 base pair deletion in DMD exon 42 (c.6051-6057delTCTCAAT mRNA), predicting a frameshift in gene transcription and truncation of dystrophin protein translation" as the likely causal variant in a "dystrophin-deficient Cavalier King Charles Spaniel".

Sánchez et al. (2018) reported "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" as being a likely causal variant in three affected Miniature Poodles.

Clinical features: Affected dogs develop clinical signs at 8 to 10 weeks of age. Signs include a shuffling gait or shortened stride (“bunny hopping”), inability to completely open the jaw, difficulty eating, thickening of the base of the tongue, excessive salivation, abduction of front paws, adduction of stifles and hocks, and prominent wasting of temporal and trunk muscles (Shelton, 2004; Valentine et al., 1992; Kornegay et al., 2011). Other signs include spinal and costal curvature, resulting in a crouched posture (Valentine et al., 1992). Elevated serum creatine kinase concentrations (up to 300 times greater than normal) begins during the first week of life age, and is exacerbated by exercise (Valentine et al., 1992). In breeds where a mutation has not been reported, affected dogs can be tentatively diagnosed by immunohistochemical tests for the presence or absence of dystrophin protein in skeletal muscle biopsy (Shelton and Engvall 2002).

Pathology: Clinical signs are caused by the absence of dystrophin protein. Affected animals initially have sarcolemma dysfunction, which results in an increased intracellular calcium and muscle fiber hypercontraction. These are followed by muscle fiber degeneration and necrosis, with some regeneration (Howell et al., 1997). Eventually, muscle fibrosis, mineralization and fat infiltration occur in both skeletal and cardiac muscle. Lesions in cardiac muscle, which are analogous but can be less severe, are usually in the ventricles, and usually occur after 6 months of age (Howell et al., 1997).

Prevalence: Muscular dystrophy in the Golden Retriever (GRMD) has received most study (Kornegay et al., 2011), but has been identified in several breeds.

Control: Female relatives of affected dogs should be tested to identify carriers. Breeding of affected or carrier animals should be avoided.

Genetic testing: Causative mutations are known in the Golden Retriever, Rottweiler, German Shorthaired Pointer, and Cavalier King Charles Spaniel. A PCR-based test is available to detect the mutation in these breeds.

Breeds: Brittany Spaniel, Cavalier King Charles Spaniel, German Shorthair Pointer, Golden Retriever, Grand Basset Griffon Vendeen, Irish Terrier, Japanese Spitz, Labrador Retriever, Miniature Schnauzer, Pembroke Welsh Corgi, Rat Terrier, Rottweiler, Samoyed, Tibetan Terrier, Weimaraner.

Associated gene:

Symbol Description Species Chr Location OMIA gene details page Other Links
DMD dystrophin Canis lupus familiaris X NC_006621.3 (28444635..26290903) DMD Homologene, Ensembl, NCBI gene


By default, variants are sorted chronologically by year of publication, to provide a historical perspective. Readers can re-sort on any column by clicking on the column header. Click it again to sort in a descending order. To create a multiple-field sort, hold down Shift while clicking on the second, third etc relevant column headers.

WARNING! Inclusion of a variant in this table does not automatically mean that it should be used for DNA testing. Anyone contemplating the use of any of these variants for DNA testing should examine critically the relevant evidence (especially in breeds other than the breed in which the variant was first described). If it is decided to proceed, the location and orientation of the variant sequence should be checked very carefully.

Breed(s) Variant Phenotype Gene Allele Type of Variant Reference Sequence Chr. g. or m. c. or n. p. Verbal Description EVA ID Year Published PubMed ID(s) Acknowledgements
Golden Retriever Muscular dystrophy, Duchenne type DMD splicing a point mutation in the consensus splice acceptor site in exon 6 of the dystrophin gene, such that exon 7 is skipped 1992 1577476
Cavalier King Charles Spaniel Muscular dystrophy, Duchenne type DMD splicing "a missense mutation in the 5' donor splice site of exon 50 that results in deletion of exon 50 in mRNA transcripts and a predicted premature truncation of the translated protein" 2010 20072625
Cocker Spaniel Muscular dystrophy, Duchenne type DMD deletion, small (<=20) deletion of four nucleotides in exon 65, with a reading frame shift predicting a premature stop codon at the site of the deletion 2012 22218699
German Shorthair Pointer Muscular dystrophy, Duchenne type DMD deletion, gross (>20) a "deletion encompassing the entire dystrophin [DMD] gene" 1999 10407848
Tibetan Terrier Muscular dystrophy, Duchenne type DMD deletion, gross (>20) "a large deletion of exons 8-29" 2012 22218699
Pembroke Welsh Corgi Muscular dystrophy, Duchenne type DMD insertion, gross (>20) "a long interspersed repetitive element-1 (LINE-1) insertion in intron 13, which introduced a new exon containing an in-frame stop codon" 2011 20714321
Labrador Retriever Muscular dystrophy, Duchenne type DMD insertion, gross (>20) "184 nucleotide [pseudoexon] insertion between exon 19 and exon 20, which results in a premature stop codon at the next codon downstream of the insertion" 2012 22218699
Japanese Spitz Muscular dystrophy, Duchenne type DMD inversion "an inversion of a 5.4-Mb fragment of the X chromosome, with one break point (BP1) in the DMD gene . . . and a second break point (BP2) in a gene farther toward the centromere, the RPGR gene". 2015 25644216
Rottweiler Muscular dystrophy, Duchenne type DMD nonsense (stop-gain) "nonsense mutation in exon 58" 1994 Reference not in PubMed; see OMIA 001081-9615 for reference details
Miniature Poodle Muscular dystrophy, Duchenne type DMD deletion, gross (>20) X "a >5 Mb deletion on the X chromosome, encompassing the entire DMD gene" 2018 29474464
Cavalier King Charles Spaniel Muscular dystrophy, Duchenne type DMD deletion, small (<=20) c.6051_6057delTCTCAAT 2016 28028563
Norfolk terrier Muscular dystrophy, Duchenne type DMD deletion, small (<=20) CanFam3 X g.27606021delG c.3084delG p.Gly1029AspfsX30 2015 26401335


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.
2019 Nghiem, P.P., Kornegay, J.N. :
Gene therapies in canine models for Duchenne muscular dystrophy. Hum Genet 138:483-489, 2019. Pubmed reference: 30734120. DOI: 10.1007/s00439-019-01976-z.
2018 Amoasii, L., Hildyard, J.C.W., Li, H., Sanchez-Ortiz, E., Mireault, A., Caballero, D., Harron, R., Stathopoulou, T.R., Massey, C., Shelton, J.M., Bassel-Duby, R., Piercy, R.J., Olson, E.N. :
Gene editing restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Science :, 2018. Pubmed reference: 30166439. DOI: 10.1126/science.aau1549.
Brinkmeyer-Langford, C., Chu, C., Balog-Alvarez, C., Yu, X., Cai, J.J., Nabity, M., Kornegay, J.N. :
Expression profiling of disease progression in canine model of Duchenne muscular dystrophy. PLoS One 13:e0194485, 2018. Pubmed reference: 29554127. DOI: 10.1371/journal.pone.0194485.
Cohen, J. :
In dogs, CRISPR fixes a muscular dystrophy. Science 361:835, 2018. Pubmed reference: 30166469. DOI: 10.1126/science.361.6405.835.
Eresen, A., Alic, L., Kornegay, J., Ji, J.X. :
Assessment of disease severity in a Canine Model of Duchenne Muscular Dystrophy: Classification of Quantitative MRI. Conf Proc IEEE Eng Med Biol Soc 2018:648-651, 2018. Pubmed reference: 30440480. DOI: 10.1109/EMBC.2018.8512303.
Maruyama, R., Aoki, Y., Takeda, S., Yokota, T. :
In Vivo Evaluation of Multiple Exon Skipping with Peptide-PMOs in Cardiac and Skeletal Muscles in Dystrophic Dogs. Methods Mol Biol 1828:365-379, 2018. Pubmed reference: 30171554. DOI: 10.1007/978-1-4939-8651-4_23.
Nakamura, A., Aoki, Y., Tsoumpra, M., Yokota, T., Takeda, S. :
In Vitro Multiexon Skipping by Antisense PMOs in Dystrophic Dog and Exon 7-Deleted DMD Patient. Methods Mol Biol 1828:151-163, 2018. Pubmed reference: 30171540. DOI: 10.1007/978-1-4939-8651-4_9.
Sánchez, L., Beltrán, E., de Stefani, A., Guo, L.T., Shea, A., Shelton, G.D., De Risio, L., Burmeister, L.M. :
Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs. PLoS One 13:e0193372, 2018. Pubmed reference: 29474464. DOI: 10.1371/journal.pone.0193372.
2017 Kodippili, K., Hakim, C., Pan, X., Yang, H.T., YUe, Y., Zhang, Y., Shin, J.H., Yang, N.N., Duan, D. :
Dual AAV gene therapy for Duchenne muscular dystrophy with a 7-kb mini-dystrophin gene in the canine model. Hum Gene Ther :, 2017. Pubmed reference: 28793798. DOI: 10.1089/hum.2017.095.
Kornegay, J.N. :
The golden retriever model of Duchenne muscular dystrophy. Skelet Muscle 7:9, 2017. Pubmed reference: 28526070. DOI: 10.1186/s13395-017-0124-z.
Le Guiner, C., Servais, L., Montus, M., Larcher, T., Fraysse, B., Moullec, S., Allais, M., François, V., Dutilleul, M., Malerba, A., Koo, T., Thibaut, J.L., Matot, B., Devaux, M., Le Duff, J., Deschamps, J.Y., Barthelemy, I., Blot, S., Testault, I., Wahbi, K., Ederhy, S., Martin, S., Veron, P., Georger, C., Athanasopoulos, T., Masurier, C., Mingozzi, F., Carlier, P., Gjata, B., Hogrel, J.Y., Adjali, O., Mavilio, F., Voit, T., Moullier, P., Dickson, G. :
Long-term microdystrophin gene therapy is effective in a canine model of Duchenne muscular dystrophy. Nat Commun 8:16105, 2017. Pubmed reference: 28742067. DOI: 10.1038/ncomms16105.
Maruyama, R., Echigoya, Y., Caluseriu, O., Aoki, Y., Takeda, S., Yokota, T. :
Systemic Delivery of Morpholinos to Skip Multiple Exons in a Dog Model of Duchenne Muscular Dystrophy. Methods Mol Biol 1565:201-213, 2017. Pubmed reference: 28364245. DOI: 10.1007/978-1-4939-6817-6_17.
Nghiem, P.P., Bello, L., Stoughton, W.B., López, S.M., Vidal, A.H., Hernandez, B.V., Hulbert, K.N., Gourley, T.R., Bettis, A.K., Balog-Alvarez, C.J., Heath-Barnett, H., Kornegay, J.N. :
Changes in Muscle Metabolism are Associated with Phenotypic Variability in Golden Retriever Muscular Dystrophy

. Yale J Biol Med 90:351-360, 2017. Pubmed reference: 28955176.
VanBelzen, D.J., Malik, A.S., Henthorn, P.S., Kornegay, J.N., Stedman, H.H. :
Mechanism of Deletion Removing All Dystrophin Exons in a Canine Model for DMD Implicates Concerted Evolution of X Chromosome Pseudogenes. Mol Ther Methods Clin Dev 4:62-71, 2017. Pubmed reference: 28344992. DOI: 10.1016/j.omtm.2016.12.001.
Wilson, K., Faelan, C., Patterson-Kane, J.C., Rudmann, D.G., Moore, S.A., Frank, D., Charleston, J., Tinsley, J., Young, G.D., Milici, A.J. :
Duchenne and Becker Muscular Dystrophies: A Review of Animal Models, Clinical End Points, and Biomarker Quantification. Toxicol Pathol 45:961-976, 2017. Pubmed reference: 28974147. DOI: 10.1177/0192623317734823.
2016 Acosta, A.R., Van Wie, E., Stoughton, W.B., Bettis, A.K., Barnett, H.H., LaBrie, N.R., Balog-Alvarez, C.J., Nghiem, P.P., Cummings, K.J., Kornegay, J.N. :
Use of the six-minute walk test to characterize golden retriever muscular dystrophy. Neuromuscul Disord :, 2016. Pubmed reference: 27818009. DOI: 10.1016/j.nmd.2016.09.024.
Brinkmeyer-Langford, C., Balog-Alvarez, C., Cai, J.J., Davis, B.W., Kornegay, J.N. :
Genome-wide association study to identify potential genetic modifiers in a canine model for Duchenne muscular dystrophy. BMC Genomics 17:665, 2016. Pubmed reference: 27549615. DOI: 10.1186/s12864-016-2948-z.
Galindo, C.L., Soslow, J.H., Brinkmeyer-Langford, C.L., Gupte, M., Smith, H.M., Sengsayadeth, S., Sawyer, D.B., Benson, D.W., Kornegay, J.N., Markham, L.W. :
Translating golden retriever muscular dystrophy microarray findings to novel biomarkers for cardiac/skeletal muscle function in Duchenne muscular dystrophy. Pediatr Res 79:629-36, 2016. Pubmed reference: 26672735. DOI: 10.1038/pr.2015.257.
Gentil, C., Le Guiner, C., Falcone, S., Hogrel, J.Y., Peccate, C., Lorain, S., Benkhelifa-Ziyyat, S., Guigand, L., Montus, M., Servais, L., Voit, T., Piétri-Rouxel, F. :
Dystrophin Threshold Level Necessary for Normalization of Neuronal Nitric Oxide Synthase, Inducible Nitric Oxide Synthase, and Ryanodine Receptor-Calcium Release Channel Type 1 Nitrosylation in Golden Retriever Muscular Dystrophy Dystrophinopathy. Hum Gene Ther :, 2016. Pubmed reference: 27279388. DOI: 10.1089/hum.2016.041.
Kornegay, J.N., Bogan, D.J., Bogan, J.R., Dow, J.L., Wang, J., Fan, Z., Liu, N., Warsing, L.C., Grange, R.W., Ahn, M., Balog-Alvarez, C.J., Cotten, S.W., Willis, M.S., Brinkmeyer-Langford, C., Zhu, H., Palandra, J., Morris, C.A., Styner, M.A., Wagner, K.R. :
Dystrophin-deficient dogs with reduced myostatin have unequal muscle growth and greater joint contractures. Skelet Muscle 6:14, 2016. Pubmed reference: 27047655. DOI: 10.1186/s13395-016-0085-7.
Miskew Nichols, B., Aoki, Y., Kuraoka, M., Lee, J.J., Takeda, S., Yokota, T. :
Multi-exon Skipping Using Cocktail Antisense Oligonucleotides in the Canine X-linked Muscular Dystrophy. J Vis Exp :, 2016. Pubmed reference: 27285612. DOI: 10.3791/53776.
Nghiem, P.P., Bello, L., Balog-Alvarez, C., Mata López, S., Bettis, A., Barnett, H., Hernandez, B., Schatzberg, S.J., Piercy, R.J., Kornegay, J.N. :
Whole genome sequencing reveals a 7 base-pair deletion in DMD exon 42 in a dog with muscular dystrophy Mammalian Genome :, 2016. Pubmed reference: 28028563. DOI: 10.1007/s00335-016-9675-2.
Sitzia, C., Farini, A., Jardim, L., Razini, P., Belicchi, M., Cassinelli, L., Villa, C., Erratico, S., Parolini, D., Bella, P., Carlos da Silva Bizario, J., Garcia, L., Dias Baruffi, M., Meregalli, M., Torrente, Y. :
Adaptive immune response impairs the efficacy of autologous transplantation of engineered stem cells in dystrophic dogs. Mol Ther :, 2016. Pubmed reference: 27506452. DOI: 10.1038/mt.2016.163.
Terrill, J.R., Duong, M.N., Turner, R., Le Guiner, C., Boyatzis, A., Kettle, A.J., Grounds, M.D., Arthur, P.G. :
Levels of inflammation and oxidative stress, and a role for taurine in dystropathology of the Golden Retriever Muscular Dystrophy dog model for Duchenne Muscular Dystrophy. Redox Biol 9:276-286, 2016. Pubmed reference: 27611888. DOI: 10.1016/j.redox.2016.08.016.
2015 Atencia-Fernandez, S., Shiel, R.E., Mooney, C.T., Nolan, C.M. :
Muscular dystrophy in the Japanese Spitz: an inversion disrupts the DMD and RPGR genes. Anim Genet 46:175-84, 2015. Pubmed reference: 25644216. DOI: 10.1111/age.12266.
Duan, D. :
Duchenne Muscular Dystrophy Gene Therapy in the Canine Model. Hum Gene Ther Clin Dev :, 2015. Pubmed reference: 25710459. DOI: 10.1089/humc.2015.006.
Duan, D., Hakim, C.H., Ambrosio, C.E., Smith, B.F., Sweeney, H.L. :
Early loss of ambulation is not a representative clinical feature in Duchenne muscular dystrophy dogs: remarks on the article of Barthélémy et al. Dis Model Mech 8:193-4, 2015. Pubmed reference: 25740329. DOI: 10.1242/dmm.019216.
Jenkins, C.A., Forman, O.P. :
Identification of a novel frameshift mutation in the DMD gene as the cause of muscular dystrophy in a Norfolk terrier dog. Canine Genet Epidemiol 2:7, 2015. Pubmed reference: 26401335. DOI: 10.1186/s40575-015-0019-4.
Robriquet, F., Lardenois, A., Babarit, C., Larcher, T., Dubreil, L., Leroux, I., Zuber, C., Ledevin, M., Deschamps, J.Y., Fromes, Y., Cherel, Y., Guevel, L., Rouger, K. :
Differential Gene Expression Profiling of Dystrophic Dog Muscle after MuStem Cell Transplantation. PLoS One 10:e0123336, 2015. Pubmed reference: 25955839. DOI: 10.1371/journal.pone.0123336.
Vieira, N.M., Elvers, I., Alexander, M.S., Moreira, Y.B., Eran, A., Gomes, J.P., Marshall, J.L., Karlsson, E.K., Verjovski-Almeida, S., Lindblad-Toh, K., Kunkel, L.M., Zatz, M. :
Jagged 1 Rescues the Duchenne Muscular Dystrophy Phenotype. Cell 163:1204-13, 2015. Pubmed reference: 26582133. DOI: 10.1016/j.cell.2015.10.049.
2014 DeVanna, J.C., Kornegay, J.N., Bogan, D.J., Bogan, J.R., Dow, J.L., Hawkins, E.C. :
Respiratory dysfunction in unsedated dogs with golden retriever muscular dystrophy. Neuromuscul Disord 24:63-73, 2014. Pubmed reference: 24295812. DOI: 10.1016/j.nmd.2013.10.001.
Martin, P.T., Golden, B., Okerblom, J., Camboni, M., Chandrasekharan, K., Xu, R., Varki, A., Flanigan, K.M., Kornegay, J.N. :
A Comparative Study of N-glycolylneuraminic Acid (Neu5Gc) and Cytotoxic T Cell (CT) Carbohydrate Expression in Normal and Dystrophin-Deficient Dog and Human Skeletal Muscle. PLoS One 9:e88226, 2014. Pubmed reference: 24505439. DOI: 10.1371/journal.pone.0088226.
Mead, A.F., Petrov, M., Malik, A.S., Mitchell, M.A., Childers, M.K., Bogan, J.R., Seidner, G., Kornegay, J.N., Stedman, H.H. :
Diaphragm Remodeling and Compensatory Respiratory Mechanics in a Canine Model of Duchenne Muscular Dystrophy. J Appl Physiol (1985) :, 2014. Pubmed reference: 24408990. DOI: 10.1152/japplphysiol.00833.2013.
Peres, M.A., da Rocha, A.M., Vannucchi, C.I., Mendes, C.M., Cavalcanti, P.V., Nichi, M., Ambrosio, C.E., Miglino, M.A., Visintin, J.A., D'Ávila Assumpção, M.E. :
Semen analysis of Golden Retriever healthy dogs and those affected by muscular dystrophy. Andrologia 46:277-82, 2014. Pubmed reference: 23463904. DOI: 10.1111/and.12079.
Wang, Z., Halbert, C.L., Lee, D., Butts, T., Tapscott, S.J., Storb, R., Miller, A.D. :
Elimination of contaminating cap genes in AAV vector virions reduces immune responses and improves transgene expression in a canine gene therapy model. Gene Ther :, 2014. Pubmed reference: 24500525. DOI: 10.1038/gt.2014.4.
2013 Araujo, K.P., Bonuccelli, G., Duarte, C.N., Gaiad, T.P., Moreira, D.F., Feder, D., Belizario, J.E., Miglino, M.A., Lisanti, M.P., Ambrosio, C.E. :
Bortezomib (PS-341) treatment decreases inflammation and partially rescues the expression of the dystrophin-glycoprotein complex in GRMD dogs. PLoS One 8:e61367, 2013. Pubmed reference: 23579193. DOI: 10.1371/journal.pone.0061367.
Brinkmeyer-Langford, C., Kornegay, J.N. :
Comparative Genomics of X-linked Muscular Dystrophies: The Golden Retriever Model. Curr Genomics 14:330-42, 2013. Pubmed reference: 24403852. DOI: 10.2174/13892029113149990004.
Broeckx, B.J., Coopman, F., Verhoeven, G.E., Van Haeringen, W., van de Goor, L., Bosmans, T., Gielen, I., Saunders, J.H., Soetaert, S.S., Van Bree, H., Van Neste, C., Van Nieuwerburgh, F., Van Ryssen, B., Verelst, E., Van Steendam, K., Deforce, D. :
The prevalence of nine genetic disorders in a dog population from belgium, the Netherlands and Germany. PLoS One 8:e74811, 2013. Pubmed reference: 24069350. DOI: 10.1371/journal.pone.0074811.
Cotten, S.W., Kornegay, J.N., Bogan, D.J., Wadosky, K.M., Patterson, C., Willis, M.S. :
Genetic myostatin decrease in the golden retriever muscular dystrophy model does not significantly affect the ubiquitin proteasome system despite enhancing the severity of disease. Am J Transl Res 6:43-53, 2013. Pubmed reference: 24349620.
Fan, Z., Wang, J., Ahn, M., Shiloh-Malawsky, Y., Chahin, N., Elmore, S., Bagnell, C.R., Wilber, K., An, H., Lin, W., Zhu, H., Styner, M., Kornegay, J.N. :
Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy. Neuromuscul Disord :, 2013. Pubmed reference: 24295811. DOI: 10.1016/j.nmd.2013.10.005.
Kane, A.M., DeFrancesco, T.C., Boyle, M.C., Malarkey, D.E., Ritchey, J.W., Atkins, C.E., Cullen, J.M., Kornegay, J.N., Keene, B.W. :
Cardiac structure and function in female carriers of a canine model of Duchenne muscular dystrophy. Res Vet Sci 94:610-7, 2013. Pubmed reference: 23231955. DOI: 10.1016/j.rvsc.2012.09.027.
Kerwin, W.S., Naumova, A., Storb, R., Tapscott, S.J., Wang, Z. :
Mapping contrast agent uptake and retention in MRI studies of myocardial perfusion: case control study of dogs with Duchenne muscular dystrophy. Int J Cardiovasc Imaging 29:819-26, 2013. Pubmed reference: 23070737. DOI: 10.1007/s10554-012-0137-y.
Nghiem, P.P., Hoffman, E.P., Mittal, P., Brown, K.J., Schatzberg, S.J., Ghimbovschi, S., Wang, Z., Kornegay, J.N. :
Sparing of the Dystrophin-Deficient Cranial Sartorius Muscle Is Associated with Classical and Novel Hypertrophy Pathways in GRMD Dogs. Am J Pathol 183:1411-24, 2013. Pubmed reference: 24160322. DOI: 10.1016/j.ajpath.2013.07.013.
Shin, J.H., Greer, B., Hakim, C.H., Zhou, Z., Chung, Y.C., Duan, Y., He, Z., Duan, D. :
Quantitative phenotyping of Duchenne muscular dystrophy dogs by comprehensive gait analysis and overnight activity monitoring. PLoS One 8:e59875, 2013. Pubmed reference: 23544107. DOI: 10.1371/journal.pone.0059875.
Shin, J.H., Pan, X., Hakim, C.H., Yang, H.T., Yue, Y., Zhang, K., Terjung, R.L., Duan, D. :
Microdystrophin ameliorates muscular dystrophy in the canine model of duchenne muscular dystrophy. Mol Ther 21:750-7, 2013. Pubmed reference: 23319056. DOI: 10.1038/mt.2012.283.
Wang, J., Fan, Z., Vandenborne, K., Walter, G., Shiloh-Malawsky, Y., An, H., Kornegay, J.N., Styner, M.A. :
A computerized MRI biomarker quantification scheme for a canine model of Duchenne muscular dystrophy. Int J Comput Assist Radiol Surg 8:763-74, 2013. Pubmed reference: 23299128. DOI: 10.1007/s11548-012-0810-6.
Wuebbles, R.D., Sarathy, A., Kornegay, J.N., Burkin, D.J. :
Levels of α7 integrin and laminin-α2 are increased following prednisone treatment in the mdx mouse and GRMD dog models of Duchenne muscular dystrophy. Dis Model Mech 6:1175-84, 2013. Pubmed reference: 23846963. DOI: 10.1242/dmm.012211.
2012 Barbash, I.M., Cecchini, S., Faranesh, A.Z., Virag, T., Li, L., Yang, Y., Hoyt, R.F., Kornegay, J.N., Bogan, J.R., Garcia, L., Lederman, R.J., Kotin, R.M. :
MRI roadmap-guided transendocardial delivery of exon-skipping recombinant adeno-associated virus restores dystrophin expression in a canine model of Duchenne muscular dystrophy. Gene Ther :, 2012. Pubmed reference: 22551778. DOI: 10.1038/gt.2012.38.
Barthélémy, I., Uriarte, A., Drougard, C., Unterfinger, Y., Thibaud, J.L., Blot, S. :
Effects of an immunosuppressive treatment in the GRMD dog model of Duchenne muscular dystrophy. PLoS One 7:e48478, 2012. Pubmed reference: 23185260. DOI: 10.1371/journal.pone.0048478.
Bedu, A.S., Labruyère, J.J., Laurent Thibaud, J., Barthélémy, I., Leperlier, D., Saunders, J.H., Blot, S. :
Age-related thoracic radiographic changes in Golden and Labrador Retriever muscular dystrophy Vet Radiol Ultrasound :, 2012. Pubmed reference: 22702494. DOI: 10.1111/j.1740-8261.2012.01948.x.
Cassano, M., Berardi, E., Crippa, S., Toelen, J., Barthelemy, I., Micheletti, R., Chuah, M., Vanderdriessche, T., Debyser, Z., Blot, S., Sampaolesi, M. :
Alteration of cardiac progenitor cell potency in GRMD dogs. Cell Transplant :, 2012. Pubmed reference: 22513051. DOI: 10.3727/096368912X638919.
Kornegay, J.N., Bogan, J.R., Bogan, D.J., Childers, M.K., Li, J., Nghiem, P., Detwiler, D.A., Larsen, C.A., Grange, R.W., Bhavaraju-Sanka, R.K., Tou, S., Keene, B.P., Howard, J.F., Wang, J., Fan, Z., Schatzberg, S.J., Styner, M.A., Flanigan, K.M., Xiao, X., Hoffman, E.P. :
Canine models of Duchenne muscular dystrophy and their use in therapeutic strategies. Mamm Genome 23:85-108, 2012. Pubmed reference: 22218699. DOI: 10.1007/s00335-011-9382-y.
Su, J.B., Cazorla, O., Blot, S., Blanchard-Gutton, N., Ait Mou, Y., Barthélémy, I., Sambin, L., Sampedrano, C.C., Gouni, V., Unterfinger, Y., Aguilar, P., Thibaud, J.L., Bizé, A., Pouchelon, J.L., Dabiré, H., Ghaleh, B., Berdeaux, A., Chetboul, V., Lacampagne, A., Hittinger, L. :
Bradykinin restores left ventricular function, sarcomeric protein phosphorylation, and e/nNOS levels in dogs with Duchenne muscular dystrophy cardiomyopathy. Cardiovasc Res 95:86-96, 2012. Pubmed reference: 22562664. DOI: 10.1093/cvr/cvs161.
Vieira, N.M., Valadares, M., Zucconi, E., Secco, M., Bueno, C.R., Brandalise, V., Assoni, A., Gomes, J., Landini, V., Andrade, T., Caetano, H.V., Vainzof, M., Zatz, M. :
Human adipose-derived mesenchymal stromal cells injected systemically into GRMD dogs without immunosuppression are able to reach the host muscle and express human dystrophin. Cell Transplant 21:1407-17, 2012. Pubmed reference: 23168016. DOI: 10.3727/096368911X.
Vulin, A., Barthélémy, I., Goyenvalle, A., Thibaud, J.L., Beley, C., Griffith, G., Benchaouir, R., le Hir, M., Unterfinger, Y., Lorain, S., Dreyfus, P., Voit, T., Carlier, P., Blot, S., Garcia, L. :
Muscle function recovery in golden retriever muscular dystrophy after AAV1-U7 exon skipping. Mol Ther 20:2120-33, 2012. Pubmed reference: 22968479. DOI: 10.1038/mt.2012.181.
Wang, Z., Storb, R., Halbert, C.L., Banks, G.B., Butts, T.M., Finn, E.E., Allen, J.M., Miller, A.D., Chamberlain, J.S., Tapscott, S.J. :
Successful regional delivery and long-term expression of a dystrophin gene in canine muscular dystrophy: a preclinical model for human therapies. Mol Ther 20:1501-7, 2012. Pubmed reference: 22692496. DOI: 10.1038/mt.2012.111.
Yang, H.T., Shin, J.H., Hakim, C.H., Pan, X., Terjung, R.L., Duan, D. :
Dystrophin deficiency compromises force production of the extensor carpi ulnaris muscle in the canine model of Duchenne muscular dystrophy. PLoS One 7:e44438, 2012. Pubmed reference: 22973449. DOI: 10.1371/journal.pone.0044438.
Yokota, T., Nakamura, A., Nagata, T., Saito, T., Kobayashi, M., Aoki, Y., Echigoya, Y., Partridge, T., Hoffman, E.P., Takeda, S. :
Extensive and prolonged restoration of dystrophin expression with vivo-morpholino-mediated multiple exon skipping in dystrophic dogs. Nucleic Acid Ther 22:306-15, 2012. Pubmed reference: 22888777. DOI: 10.1089/nat.2012.0368.
2011 Guevel, L., Lavoie, J.R., Perez-Iratxeta, C., Rouger, K., Dubreil, L., Feron, M., Talon, S., Brand, M., Megeney, L.A. :
Quantitative proteomic analysis of dystrophic dog muscle. J Proteome Res 10:2465-78, 2011. Pubmed reference: 21410286. DOI: 10.1021/pr2001385.
Hoffman, E.P., Bronson, A., Levin, A.A., Takeda, S., Yokota, T., Baudy, A.R., Connor, E.M. :
Restoring dystrophin expression in duchenne muscular dystrophy muscle progress in exon skipping and stop codon read through. Am J Pathol 179:12-22, 2011. Pubmed reference: 21703390. DOI: 10.1016/j.ajpath.2011.03.050.
Kornegay, JN., Bogan, JR., Bogan, DJ., Childers, MK., Grange, RW. :
Golden retriever muscular dystrophy (GRMD): Developing and maintaining a colony and physiological functional measurements. Methods Mol Biol 709:105-23, 2011. Pubmed reference: 21194024. DOI: 10.1007/978-1-61737-982-6_7.
Nakamura, A., Takeda, S. :
Mammalian models of Duchenne Muscular Dystrophy: pathological characteristics and therapeutic applications. J Biomed Biotechnol 2011:184393, 2011. Pubmed reference: 21274260. DOI: 10.1155/2011/184393.
Olby, NJ., Sharp, NJ., Nghiem, PE., Keene, BW., DeFrancesco, TC., Sidley, JA., Kornegay, JN., Schatzberg, SJ. :
Clinical progression of X-linked muscular dystrophy in two German Shorthaired Pointers. J Am Vet Med Assoc 238:207-12, 2011. Pubmed reference: 21235374. DOI: 10.2460/javma.238.2.207.
Smith, BF., Yue, Y., Woods, PR., Kornegay, JN., Shin, JH., Williams, RR., Duan, D. :
An intronic LINE-1 element insertion in the dystrophin gene aborts dystrophin expression and results in Duchenne-like muscular dystrophy in the corgi breed. Lab Invest 91:216-31, 2011. Pubmed reference: 20714321. DOI: 10.1038/labinvest.2010.146.
Yokota, T., Hoffman, E., Takeda, S. :
Antisense oligo-mediated multiple exon skipping in a dog model of duchenne muscular dystrophy. Methods Mol Biol 709:299-312, 2011. Pubmed reference: 21194037. DOI: 10.1007/978-1-61737-982-6_20.
2010 Kornegay, JN., Li, J., Bogan, JR., Bogan, DJ., Chen, C., Zheng, H., Wang, B., Qiao, C., Howard, JF., Xiao, X. :
Widespread muscle expression of an AAV9 human mini-dystrophin vector after intravenous injection in neonatal dystrophin-deficient dogs. Mol Ther 18:1501-8, 2010. Pubmed reference: 20517298. DOI: 10.1038/mt.2010.94.
Partridge, T. :
The potential of exon skipping for treatment for Duchenne muscular dystrophy. J Child Neurol 25:1165-70, 2010. Pubmed reference: 20519674. DOI: 10.1177/0883073810371130.
Saito, T., Nakamura, A., Aoki, Y., Yokota, T., Okada, T., Osawa, M., Takeda, S. :
Antisense PMO found in dystrophic dog model was effective in cells from exon 7-deleted DMD patient. PLoS One 5:e12239, 2010. Pubmed reference: 20805873. DOI: 10.1371/journal.pone.0012239.
Walmsley, GL., Arechavala-Gomeza, V., Fernandez-Fuente, M., Burke, MM., Nagel, N., Holder, A., Stanley, R., Chandler, K., Marks, SL., Muntoni, F., Shelton, GD., Piercy, RJ. :
A duchenne muscular dystrophy gene hot spot mutation in dystrophin-deficient cavalier king charles spaniels is amenable to exon 51 skipping. PLoS One 5:e8647, 2010. Pubmed reference: 20072625. DOI: 10.1371/journal.pone.0008647.
Zucconi, E., Valadares, MC., Vieira, NM., Bueno, CR., Secco, M., Jazedje, T., da Silva, HC., Vainzof, M., Zatz, M. :
Ringo: discordance between the molecular and clinical manifestation in a golden retriever muscular dystrophy dog. Neuromuscul Disord 20:64-70, 2010. Pubmed reference: 19944604. DOI: 10.1016/j.nmd.2009.10.011.
2009 Piercy, RJ., Walmsley, G. :
Muscular dystrophy in Cavalier King Charles spaniels. Vet Rec 165:62, 2009. Pubmed reference: 19596683.
Willmann, R., Possekel, S., Dubach-Powell, J., Meier, T., Ruegg, MA. :
Mammalian animal models for Duchenne muscular dystrophy. Neuromuscul Disord 19:241-9, 2009. Pubmed reference: 19217290. DOI: 10.1016/j.nmd.2008.11.015.
Yokota, T., Lu, QL., Partridge, T., Kobayashi, M., Nakamura, A., Takeda, S., Hoffman, E. :
Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol 65:667-76, 2009. Pubmed reference: 19288467. DOI: 10.1002/ana.21627.
Zucconi, E., Jazedje, T., Valadares, M.C., Zatz, M. :
Comments to the paper by Ambrósio CE, Fadel L, Gaiad TP, Martins DS, et al. [Identification of three distinguishable phenotypes in golden retriever muscular dystrophy (Genet. Mol. Res. 2009 Apr 7;8 (2): 389-396)]. Genet Mol Res 8:818-21, 2009. Pubmed reference: 19731203. DOI: 10.4238/vol8-3gmrCarta01.
2008 Banks, G.B., Chamberlain, J.S. :
The value of mammalian models for duchenne muscular dystrophy in developing therapeutic strategies. Curr Top Dev Biol 84:431-53, 2008. Pubmed reference: 19186250. DOI: 10.1016/S0070-2153(08)00609-1.
Urasawa, N., Wada, MR., Machida, N., Yuasa, K., Shimatsu, Y., Wakao, Y., Yuasa, S., Sano, T., Nonaka, I., Nakamura, A., Takeda, S. :
Selective vacuolar degeneration in dystrophin-deficient canine Purkinje fibers despite preservation of dystrophin-associated proteins with overexpression of Dp71. Circulation 117:2437-48, 2008. Pubmed reference: 18458171. DOI: 10.1161/CIRCULATIONAHA.107.739326.
2007 Smith, B.F., Kornegay, J.N., Duan, D. :
Independent canine models of Duchenne muscular dystrophy due to intronic insertions of repetitive DNA. Mol Ther. 15(Suppl. 1):S51, 2007.
2006 McClorey, G., Moulton, HM., Iversen, PL., Fletcher, S., Wilton, SD. :
Antisense oligonucleotide-induced exon skipping restores dystrophin expression in vitro in a canine model of DMD. Gene Ther 13:1373-81, 2006. Pubmed reference: 16724091. DOI: 10.1038/
2005 Chetboul, V., Tessier-Vetzel, D., Escriou, C., Tissier, R., Carlos, C., Boussouf, M., Pouchelon, JL., Blot, S., Derumeaux, G. :
Diagnostic potential of natriuretic peptides in the occult phase of golden retriever muscular dystrophy cardiomyopathy. J Vet Intern Med 18:845-50, 2005. Pubmed reference: 15638261.
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Microvessel density in muscles of dogs with golden retriever muscular dystrophy. Neuromuscul Disord 15:154-63, 2005. Pubmed reference: 15694137. DOI: 10.1016/j.nmd.2004.11.002.
Shelton, GD., Engvall, E. :
Canine and feline models of human inherited muscle diseases. Neuromuscul Disord 15:127-38, 2005. Pubmed reference: 15694134. DOI: 10.1016/j.nmd.2004.10.019.
Shimatsu, Y., Yoshimura, M., Yuasa, K., Urasawa, N., Tomohiro, M., Nakura, M., Tanigawa, M., Nakamura, A., Takeda, S. :
Major clinical and histopathological characteristics of canine X-linked muscular dystrophy in Japan, CXMDJ. Acta Myol 24:145-54, 2005. Pubmed reference: 16550932.
2004 Chetboul, V., Carlos, C., Blot, S., Thibaud, JL., Escriou, C., Tissier, R., Retortillo, JL., Pouchelon, JL. :
Tissue Doppler assessment of diastolic and systolic alterations of radial and longitudinal left ventricular motions in Golden Retrievers during the preclinical phase of cardiomyopathy associated with muscular dystrophy. Am J Vet Res 65:1335-41, 2004. Pubmed reference: 15524319.
Chetboul, V., Escriou, C., Tessier, D., Richard, V., Pouchelon, JL., Thibault, H., Lallemand, F., Thuillez, C., Blot, S., Derumeaux, G. :
Tissue Doppler imaging detects early asymptomatic myocardial abnormalities in a dog model of Duchenne's cardiomyopathy. Eur Heart J 25:1934-9, 2004. Pubmed reference: 15522464. DOI: 10.1016/j.ehj.2004.08.013.
Dell'Agnola, C., Wang, Z., Storb, R., Tapscott, SJ., Kuhr, CS., Hauschka, SD., Lee, RS., Sale, GE., Zellmer, E., Gisburne, S., Bogan, J., Kornegay, JN., Cooper, BJ., Gooley, TA., Little, MT. :
Hematopoietic stem cell transplantation does not restore dystrophin expression in Duchenne muscular dystrophy dogs. Blood 104:4311-8, 2004. Pubmed reference: 15328150. DOI: 10.1182/blood-2004-06-2247.
Jones, B.R., Brennan, S., Mooney, C.T., Callanan, J.J., McAllister, H., Guo, L.T., Martin, P.T., Engvall, E., Shelton, G.D. :
Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs. J Neurol Sci 217:143-9, 2004. Pubmed reference: 14706216.
Liu, JM., Okamura, CS., Bogan, DJ., Bogan, JR., Childers, MK., Kornegay, JN. :
Effects of prednisone in canine muscular dystrophy. Muscle Nerve 30:767-73, 2004. Pubmed reference: 15468337. DOI: 10.1002/mus.20154.
Shelton, G.D. :
Muscular dystrophies: expanding our knowledge in companion animals. Vet J 168:6-8, 2004. Pubmed reference: 15158202. DOI: 10.1016/j.tvjl.2004.03.013.
2003 Cerletti, M., Negri, T., Cozzi, F., Colpo, R., Andreetta, F., Croci, D., Davies, K.E., Cornelio, F., Pozza, O., Karpati, G., Gilbert, R., Mora, M. :
Dystrophic phenotype of canine X-linked muscular dystrophy is mitigated by adenovirus-mediated utrophin gene transfer Gene Therapy 10:750-7, 2003. Pubmed reference: 12704413. DOI: 10.1038/
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Duchenne's muscular dystrophy: animal models used to investigate pathogenesis and develop therapeutic strategies. Int J Exp Pathol 84:165-72, 2003. Pubmed reference: 14632630.
Kornegay, J.N., Cundiff, D.D., Bogan, D.J., Bogan, J.R., Okamura, C.S. :
The cranial sartorius muscle undergoes true hypertrophy in dogs with golden retriever muscular dystrophy Neuromuscular Disorders 13:493-500, 2003. Pubmed reference: 12899877.
Shimatsu, Y., Katagiri, K., Furuta, T., Nakura, M., Tanioka, Y., Yuasa, K., Tomohiro, M., Kornegay, J.N., Nonaka, I., Takeda, S. :
Canine X-linked muscular dystrophy in Japan (CXMDJ) Experimental Animals 52:93-7, 2003. Pubmed reference: 12806883.
2002 Bergman, R.L., Inzana, K.D., Monroe, W.E., Shell, L.G., Liu, L.A., Engvall, E., Shelton, G.D. :
Dystrophin-deficient muscular dystrophy in a labrador retriever Journal of the American Animal Hospital Association 38:255-261, 2002. Pubmed reference: 12022412.
Childers, M.K., Okamura, C.S., Bogan, D.J., Bogan, J.R., Petroski, G.F., McDonald, K., Kornegay, J.N. :
Eccentric contraction injury in dystrophic canine muscle Archives of Physical Medicine & Rehabilitation 83:1572-1578, 2002.
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[Animal models of Duchenne muscular dystrophy]. Rev Prat 52:937-40, 2002. Pubmed reference: 12063758.
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Muscle lesions associated with dystrophin deficiency in neonatal golden retriever puppies Journal of Comparative Pathology 126:100-108, 2002. Pubmed reference: 11944998. DOI: 10.1053/jcpa.2001.0526.
Passerini, L., Bernasconi, P., Baggi, F., Confalonieri, P., Cozzi, F., Cornelio, F., Mantegazza, R. :
Fibrogenic cytokines and extent of fibrosis in muscle of dogs with X-linked golden retriever muscular dystrophy Neuromuscular Disorders 12:828-835, 2002. Pubmed reference: 12398833.
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Muscular dystrophies and other inherited myopathies. Vet Clin North Am Small Anim Pract 32:103-24, 2002. Pubmed reference: 11785725.
2001 Childers, M.K., Okamura, C.S., Bogan, D.J., Bogan, J.R., Sullivan, M.J., Kornegay, J.N. :
Myofiber injury and regeneration in a canine homologue of Duchenne muscular dystrophy American Journal of Physical Medicine & Rehabilitation 80:175-181, 2001. Pubmed reference: 11237271.
Cozzi, F., Cerletti, M., Luvoni, G.C., Lombardo, R., Brambilla, P.G., Faverzani, S., Blasevich, F., Cornelio, F., Pozza, O., Mora, M. :
Development of muscle pathology in canine X-linked muscular dystrophy. II. Quantitative characterization of histopathological progression during postnatal skeletal muscle development Acta Neuropathologica 101:469-478, 2001. Pubmed reference: 11484818.
Fletcher, S., Carville, K.S., Howell, J.M., Mann, C.J., Wilton, S.D. :
Evaluation of a short interspersed nucleotide element in the 3 ' untranslated region of the defective dystrophin gene of dogs with muscular dystrophy American Journal of Veterinary Research 62:1964-1968, 2001. Pubmed reference: 11763189.
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Cryptic splicing involving the splice site mutation in the canine model of Duchenne muscular dystrophy Neuromuscular Disorders 11:239-243, 2001. Pubmed reference: 11297938.
2000 Bartlett, R.J., Stockinger, S., Denis, M.M., Bartlett, W.T., Inverardi, L., Le, T.T., Man, N.T., Morris, G.E., Bogan, D.J., Metcalf-Bogan, J., Kornegay, J.N. :
In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide Nature Biotechnology 18:615-622, 2000. Pubmed reference: 10835598. DOI: 10.1038/76448.
Bartlett, R.J., Stockinger, S., Denis, M.M., Bartlett, W.T., Inverardi, L., Le, T.T., Man, T.M., Morris, G.E., Bogan, D.J., Metcalf-Bogan, J., Kornegay, J.N. :
In vivo targeted repair of a point mutation in the canine dystrophin gene by a chimeric RNA/DNA oligonucleotide (vol 18, pg 615, 2000) Nature Biotechnology 18:1209, 2000. DOI: 10.1038/81216.
Wetterman, C.A., Harkin, K.R., Cash, W.C., Nietfield, J.C., Shelton, G.D. :
Hypertrophic muscular dystrophy in a young dog Journal of the American Veterinary Medical Association 216:878-+, 2000.
1999 Honeyman, K., Carville, K.S., Howell, J.M., Fletcher, S., Wilton, S.D. :
Development of a snapback method of single-strand conformation polymorphism analysis for genotyping Golden Retrievers for the X-linked muscular dystrophy allele American Journal of Veterinary Research 60:734-737, 1999. Pubmed reference: 10376903.
Kornegay, J.N., Bogan, D.J., Bogan, J.R., Childers, M.K., Cundiff, D.D., Petroski, G.F., Schueler, R.O. :
Contraction force generated by tarsal joint flexion and extension in dogs with golden retriever muscular dystrophy Journal of the Neurological Sciences 166:115-121, 1999. Pubmed reference: 10475104.
Lanfossi, M., Cozzi, F., Bugini, D., Colombo, S., Scarpa, P., Morandi, L., Galbiati, S., Cornelio, F., Pozza, O., Mora, M. :
Development of muscle pathology in canine X-linked muscular dystrophy. I. Delayed postnatal maturation of affected and normal muscle as revealed by myosin isoform analysis and utrophin expression Acta Neuropathologica 97:127-138, 1999. Pubmed reference: 9928823.
Schatzberg, S.J., Olby, N.J., Breen, M., Anderson, L.V.B., Langford, C.F., Dickens, H.F., Wilton, S.D., Zeiss, C.J., Binns, M.M., Kornegay, J.N., Morris, G.E., Sharp, N.J.H. :
Molecular analysis of a spontaneous dystrophin 'knockout' dog Neuromuscular Disorders 9:289-295, 1999. Pubmed reference: 10407848.
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A polymerase chain reaction screening strategy for the promoter of the canine dystrophin gene American Journal of Veterinary Research 60:1040-1046, 1999. Pubmed reference: 10490068.
1998 Howell, J.M., Lochmüller, H., O'Hara, A., Fletcher, S., Kakulas, B.A., Massie, B., Nalbantoglu, J., Karpati, G. :
High-level dystrophin expression after adenovirus-mediated dystrophin minigene transfer to skeletal muscle of dystrophic dogs: prolongation of expression with immunosuppression. Hum Gene Ther 9:629-34, 1998. Pubmed reference: 9551611. DOI: 10.1089/hum.1998.9.5-629.
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1997 Howell, J.M., Fletcher, S., Kakulas, B.A., Ohara, M., Lochmuller, H., Karpati, G. :
Use of the dog model for duchenne muscular dystrophy in gene therapy trials Neuromuscular Disorders 7:325-328, 1997. Pubmed reference: 9267846.
1996 Bartlett, R.J., Winand, N.J., Secore, S.L., Singer, J.T., Fletcher, S., Wilton, S., Bogan, D.J., Metcalfbogan, J.R., Bartlett, W.T., Howell, J.M., Cooper, B.J., Kornegay, J.N. :
Mutation segregation and rapid carrier detection of X-linked muscular dystrophy in dogs American Journal of Veterinary Research 57:650-654, 1996. Pubmed reference: 8723876.
1995 Koh, G.Y., Soonpaa, M.H., Klug, M.G., Pride, H.P., Cooper, B.J., Zipes, D.P., Field, L.J. :
Stable fetal cardiomyocyte grafts in the hearts of dystrophic mice and dogs Journal of Clinical Investigation 96:2034-2042, 1995. Pubmed reference: 7560097. DOI: 10.1172/JCI118251.
Vanham, L.M.L., Desmidt, M., Tshamala, M., Hoorens, J.K., Mattheeuws, D.R.G. :
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1994 Winand, N., Pradham, D., Cooper, B. :
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1993 Vanham, L.M.L., Desmidt, M., Tshamala, M., Hoorens, J.K., Mattheeuws, D.R.G. :
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1992 Cooper, B.J., Kakulas, B.A., Howell, J.M., Roses, A.D. :
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Valentine, B.A., Winand, N.J., Pradhan, D., Moise, N.S., Delahunta, A., Kornegay, J.N., Cooper, B.J. :
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1991 Moise, NS., Valentine, BA., Brown, CA., Erb, HN., Beck, KA., Cooper, BJ., Gilmour, RF. :
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1990 Valentine, B.A., Cooper, B.J., Cummings, J.F., Delahunta, A. :
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1988 Cooper, B.J., Valentine, B.A. :
X-linked muscular dystrophy in the dog. Trends Genet 4:30, 1988. Pubmed reference: 3245071.
Cooper, B.J., Winand, N.J., Stedman, H., Valentine, B.A., Hoffman, E.P., Kunkel, L.M., Scott, M.O., Fischbeck, K.H., Kornegay, J.N., Avery, R.J., Williams, J.R., Schmickel, R.D., Sylvester, J.E. :
The homologue of the Duchenne locus is defective in X-linked muscular dystrophy of dogs Nature 334:154-156, 1988. Pubmed reference: 3290691. DOI: 10.1038/334154a0.
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Canine muscular dystrophy: confirmation of X-linked inheritance. J Hered 79:405-8, 1988. Pubmed reference: 3209849.
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