DISEASES

Disease-gene associations mined from literature

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 ...