The detail information of Muscular dystrophy, limb-girdle, type R6 (LGMDR6)
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: -
Considered a defect: yes
Year key mutation first reported: 2017
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
| iDog Breed Number | Breed Name | Personality | Height | Weight | History | Breed Source |
|---|---|---|---|---|---|---|
| CB46 | Boston Terrier | 38.1-43.2 cm | 4.5-11.3 kg | United States |
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| SGCD | sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) | Canis lupus familiaris | Chr4 : 54612269 - 53696389 | Homologene, Ensembl, NCBI gene |
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.
| 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 . |