Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1 - CISMeF
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1NCIt concept
Preferred Label : Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1;
NCIt synonyms : MDDGC1; Limb-Girdle Muscular Dystrophy Type 2K; LGMD2K;
NCIt definition : An autosomal recessive limb-girdle muscular dystrophy caused by mutations in the POMT1
gene, encoding protein O-mannosyl-transferase 1. It is characterized by mental retardation
without structural brain abnormalities and limb-girdle muscular dystrophy.;