The detail information of Muscular dystrophy, limb-girdle, type R3 (LGMDR3)
OMIA Basic Information
Possible human homologues (MIM numbers):
Mendelian trait/disorder: yes
Mode of inheritance: Autosomal Recessive
Considered a defect: yes
Year key mutation first reported: 2021
Species-specific name: -
Species-specific symbol: -
More detail information can see in
Associated Breeds
There are associated breeds.
Associated Gene
| Symbol | Description | Species | Position | Other Links |
|---|---|---|---|---|
| SGCA | sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) | Canis lupus familiaris | Chr9 : 26959303 - 26972755 | 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.
| 2021 |
Mickelson,J.R.,Minor,K.M.,Guo,L.T.,Friedenberg,S.G.,Cullen,J.N.,Ciavarella,A.,Hambrook,L.E.,Brenner,K.M.,Helmond,S.E.,Marks,S.L.,Shelton,G.D.: :
Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D. Skelet Muscle 11:2, 2021. Pubmed reference: 33407862 . DOI: 10.1186/s13395-020-00257-y . |