Autosomal Dominant Congenital Myopathy-1A

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal dominant condition caused by mutation(s) in the RYR1 gene, encoding ryanodine receptor 1. The phenotype is variable, but generally includes weakness in the proximal muscles of the lower limb and individuals are at increased risk for malignant hyperthermia.

**Synonyms:** - CMYP1A