Rippling muscle disease 2

MONDO:0019947

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: CAV3 autosomal dominant limb-girdle muscular dystrophy, CAV3 rippling muscle disease, LGMD1C, RMD2, autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3, limb-girdle muscular dystrophy due to caveolin-3 deficiency, muscular dystrophy limb-girdle type IC, rippling muscle disease 2

36 clinical trials for this condition and its sub-types.

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