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Rippling muscle disease 2
rareAn 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.
- Identifiers
- MONDO:0019947 OMIM:606072Orphanet:97238
- Causal genes
- CAV3
- 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
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