Caveolinopathy - New mutations and additional symptoms.
June 29th, 2008Caveolinopathy - New mutations and additional symptoms. Mutations in the caveolin-3 gene (CAV3) can lead to a broad spectrum of clinical phenotypes. Phenotypes that have so far been associated with primary caveolin-3 deficiency include limb girdle muscular dystrophy, rippling muscle disease, distal myopathy and hyperCKaemia. This ...