autosomal recessive limb-girdle muscular dystrophy type 2A

Term ID

DOID:0110275

Synonyms

• Leyden-Moebius muscular dystrophy
• LGMD2A
• limb-girdle muscular dystrophy due to calpain deficiency
• muscular dystrophy, limb-girdle, type 2A
• pelvofemoral muscular dystrophy
• primary calpainopathy

Definition

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. https://www.ncbi.nlm.nih.gov/pubmed/7720071

References

• GARD:3845
• ICD10CM:G71.0
• OMIM:253600
• ORDO:267

Ontology

Human Disease   ( DOID:0110275 )