Human genes for autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2E [DOID:0110279]
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.
Synonyms: autosomal recessive limb-girdle muscular dystrophy type 2E, autosomal recessive limbgirdle muscular dystrophy type 2E, DOID:0110279, Beta-sarcoglycanopathy, LGMD2E ...