Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 2Y

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive subtype of limb-girdle muscular dystrophy caused by mutation(s) in the TOR1AIP1 gene, encoding torsin-1A-interacting protein 1.

**Synonyms:** - LGMD2Y - MRRSDC - Muscular Dystrophy, Autosomal Recessive, with Rigid Spine and Distal Joint Contractures - TOR1AIP1-Related LGMD - TOR1AIP1-Related Limb-Girdle Muscular Dystrophy