Term Name: autosomal recessive limb-girdle muscular dystrophy type 2E
Synonyms: Beta-sarcoglycanopathy, LGMD2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, muscular dystrophy, limb-girdle, type 2E
Definition: An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12.
Ontology: Human Disease [DOID:0110279]   ( DOID:0110279 )

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