Visualize Submit Comment
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

ICD10CM:G71.0

OMIM:253700

ORDO:353

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

is_a autosomal recessive limb-girdle muscular dystrophy

Add an item to the term tracker