autosomal recessive limb-girdle muscular dystrophy type 2C

Term ID

DOID:0110277

Synonyms

• autosomal recessive Duchenne-like muscular dystrophy type 1
• deficiency of sarcoglycan gamma
• DMDA1
• gamma-sarcoglycanopathy
• LGMD2C
• limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
• Maghrebian myopathy
• muscular dystrophy, limb-girdle, type 2C
• SCARMD
• severe childhood autosomal recessive muscular dystrophy North African type

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

References

• ICD10CM:G71.0
• MIM:253700
• ORDO:353

Ontology

Human Disease   ( DOID:0110277 )