Limb-Girdle Muscular Dystrophy Type 2A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s) in the CAPN3 gene, encoding calpain-3. It is characterized by muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking.

**Synonyms:** - Autosomal Recessive Muscular Dystrophy Limb-Girdle 1 - LGMD2A - LGMDR1