RS116840776 CAV3
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What This Variant Does
"Caveolin-3 in muscular dystrophy. Mutations in the caveolin-3 gene: When are they pathogenic? Caveol...
Associated Conditions
Rippling muscle disease 2
Limb-girdle muscular dystrophy
Cardiovascular phenotype
Hypertrophic cardiomyopathy 1
Elevated circulating creatine kinase concentration
Distal myopathy
Tateyama type
Long QT syndrome 9
Long QT syndrome 1
Cardiomyopathy
Long QT syndrome
Caveolinopathy
CAV3-related disorder
Rippling muscle disease 2
Limb-girdle muscular dystrophy
Other Variants in CAV3