Term Name: autosomal recessive limb-girdle muscular dystrophy type 2A
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.
Ontology: Human Disease [DOID:0110275]   ( DOID:0110275 )

Relationships
is a type of: autosomal recessive limb-girdle muscular dystrophy