Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 1

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - LGMD2K - Limb-Girdle Muscular Dystrophy Type 2K - MDDGC1