label: Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1
label_lc: muscular dystrophy-dystroglycanopathy (limb-girdle) type c, 1
description: "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."