CAV3 p.Ala93Thr pathogenic mutation causing hypertrophic cardiomyopathy


CAV3 related disorders encompasses a great range of phenotypes, to include fixed muscle weakness due to limb girdle muscular dystrophy, rippling muscle disease, hyperCKaemia, distal myopathy, myalgia, exertion intolerance and recurrent rhabdomyolysis. Overlapping phenotypical spectrum and intrafamilial variability may pose a further challenge on caveolinopathy diagnosis. A 52 years old gentleman was referred to the Muscle Clinic at the National Hospital for Neurology and Neurosurgery at Queen Square following a recent genetic diagnosis of caveolinopathy.


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