Human genes for autosomal recessive limb-girdle muscular dystrophy type 2B
Autosomal recessive limb-girdle muscular dystrophy type 2B [DOID:0110276]
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the skeletal muscle protein dysferlin (DYSF) on chromosome 2p13.
Synonyms: autosomal recessive limb-girdle muscular dystrophy type 2B, autosomal recessive limbgirdle muscular dystrophy type 2B, DOID:0110276, LGMD2B, LGMD3 ...