DISEASES

Disease-gene associations mined from literature

Human genes for autosomal recessive limb-girdle muscular dystrophy type 2K

Autosomal recessive limb-girdle muscular dystrophy type 2K [DOID:0110297]

An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding protein O-mannosyltransferase (POMT1).

Synonyms:  autosomal recessive limb-girdle muscular dystrophy type 2K,  autosomal recessive limbgirdle muscular dystrophy type 2K,  DOID:0110297,  LGMD2K,  limb-girdle muscular dystrophy-intellectual disability syndrome ...