OMIA 002122-9615 : Muscular dystrophy, limb-girdle, type 2F in Canis lupus familiaris
|Symbol||Description||Species||Chr||Location||OMIA gene details page||Other Links|
|SGCD||sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)||Canis lupus familiaris||4||NC_006586.3 (54178228..53259332)||SGCD||Homologene, Ensembl, NCBI gene|
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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|
|Boston Terrier||Muscular dystrophy, limb-girdle, type 2F||SGCD||deletion, small (<=20)||CanFam3.1||4||c.534_535delGA||2017||28702169|
|Boston Terrier||Muscular dystrophy, limb-girdle, type 2F||SGCD||indel, gross (>20)||CanFam3.1||4||g.53262018_53262020delinsCC; g||g.53262018_53262020delinsCC; g.53262030_53281432del||2017||28702169|
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.
|2017||Cox, M.L., Evans, J.M., Davis, A.G., Guo, L.T., Levy, J.R., Starr-Moss, A.N., Salmela, E., Hytönen, M.K., Lohi, H., Campbell, K.P., Clark, L.A., Shelton, G.D. :|
|Exome sequencing reveals independent SGCD deletions causing limb girdle muscular dystrophy in Boston terriers. Skelet Muscle 7:15, 2017. Pubmed reference: 28702169. DOI: 10.1186/s13395-017-0131-0.|
|2008||Deitz, K., Morrison, J.A., Kline, K., Guo, L.T., Shelton, G.D. :|
|Sarcoglycan-deficient muscular dystrophy in a Boston Terrier. J Vet Intern Med 22:476-80, 2008. Pubmed reference: 18371037. DOI: 10.1111/j.1939-1676.2008.0080.x.|
|2004||Schatzberg, SJ., Shelton, GD. :|
|Newly identified neuromuscular disorders. Vet Clin North Am Small Anim Pract 34:1497-524, 2004. Pubmed reference: 15474686. DOI: 10.1016/j.cvsm.2004.06.001.|
- Created by Frank Nicholas on 01 Sep 2017
- Changed by Frank Nicholas on 01 Sep 2017