| Metadata | |
|---|---|
| ID | DOID:0110277 |
| Name | autosomal recessive limb-girdle muscular dystrophy type 2C |
| Definition | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. https://www.ncbi.nlm.nih.gov/pubmed/7481775 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal recessive Duchenne-like muscular dystrophy type 1 [EXACT] deficiency of sarcoglycan gamma [EXACT] DMDA1 [EXACT] gamma-sarcoglycanopathy [EXACT] LGMD2C [EXACT] limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency [EXACT] Maghrebian myopathy [EXACT] muscular dystrophy, limb-girdle, type 2C [EXACT] SCARMD [EXACT] severe childhood autosomal recessive muscular dystrophy North African type [EXACT] |
| Parent Relationships |