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

Variants

By default, variants are sorted chronologically by year of publication, to provide a historical perspective.

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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

References


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.
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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.
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.
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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.
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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.
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Brinkmeyer-Langford, C., Balog-Alvarez, C., Cai, J.J., Davis, B.W., Kornegay, J.N. :
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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.
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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. :
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Duan, D., Hakim, C.H., Ambrosio, C.E., Smith, B.F., Sweeney, H.L. :
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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.
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2014 DeVanna, J.C., Kornegay, J.N., Bogan, D.J., Bogan, J.R., Dow, J.L., Hawkins, E.C. :
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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.
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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.
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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.
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Shin, J.H., Greer, B., Hakim, C.H., Zhou, Z., Chung, Y.C., Duan, Y., He, Z., Duan, D. :
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Wang, J., Fan, Z., Vandenborne, K., Walter, G., Shiloh-Malawsky, Y., An, H., Kornegay, J.N., Styner, M.A. :
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Wuebbles, R.D., Sarathy, A., Kornegay, J.N., Burkin, D.J. :
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Mammalian animal models for Duchenne muscular dystrophy. Neuromuscul Disord 19:241-9, 2009. Pubmed reference: 19217290. DOI: 10.1016/j.nmd.2008.11.015.
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Efficacy of systemic morpholino exon-skipping in Duchenne dystrophy dogs. Ann Neurol 65:667-76, 2009. Pubmed reference: 19288467. DOI: 10.1002/ana.21627.
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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/sj.gt.3302800.
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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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.
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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.
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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.
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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.
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Muscular dystrophy with truncated dystrophin in a family of Japanese Spitz dogs. J Neurol Sci 217:143-9, 2004. Pubmed reference: 14706216.
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Effects of prednisone in canine muscular dystrophy. Muscle Nerve 30:767-73, 2004. Pubmed reference: 15468337. DOI: 10.1002/mus.20154.
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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. :
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The cranial sartorius muscle undergoes true hypertrophy in dogs with golden retriever muscular dystrophy Neuromuscular Disorders 13:493-500, 2003. Pubmed reference: 12899877.
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2002 Bergman, R.L., Inzana, K.D., Monroe, W.E., Shell, L.G., Liu, L.A., Engvall, E., Shelton, G.D. :
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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.
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1999 Honeyman, K., Carville, K.S., Howell, J.M., Fletcher, S., Wilton, S.D. :
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1998 Howell, J.M., Lochmüller, H., O'Hara, A., Fletcher, S., Kakulas, B.A., Massie, B., Nalbantoglu, J., Karpati, G. :
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1995 Koh, G.Y., Soonpaa, M.H., Klug, M.G., Pride, H.P., Cooper, B.J., Zipes, D.P., Field, L.J. :
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