Rs72546668

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.


 * is_associated_with_disease::Muscular dystrophy
 * is_associated_with_disease::Long QT syndrome
 * is_associated_with_disease::Sudden infant death syndrome