Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle) Type C, 5

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive inherited limb-girdle muscular dystrophy caused by mutations in the gene encoding fukutin-related protein (FKRP). It is characterized by variable age at onset, normal cognition, and no structural brain changes.

**Synonyms:** - LGMD2I - Limb-Girdle Muscular Dystrophy Type 2I - MDDGC5