Rippling muscle disease 2
Rippling muscle disease 2
Definition
An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype.
Also known as autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3, CAV3 autosomal dominant limb-girdle muscular dystrophy, CAV3 rippling muscle disease, LGMD1C, limb-girdle muscular dystrophy due to caveolin-3 deficiency, muscular dystrophy limb-girdle type IC, rippling muscle disease 2, rippling muscle disease caused by mutation in CAV3, rippling muscle disease type 2, RMD2 — per MONDO