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 ...