Variant: rs116840778 

    present in Gene: SSUH2;CAV3
    present in Chromosome: 3
    Position on Chromosome: 8733956
    Alleles of this Variant: G/A;C

rs116840778 in SSUH2;CAV3 gene and Long QT Syndrome PMID 10746614 2000 Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

PMID 11431690 2001 Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

PMID 11756609 2001 A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

PMID 12939441 2003 Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

PMID 19380584 2009 Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.

PMID 12807393 2003 Caveolin-3 gene mutation in Japanese with rippling muscle disease.

PMID 18930476 2009 Phenotypic variability in a Spanish family with a Caveolin-3 mutation.

PMID 15318349 2004 Phenotypic variability associated with Arg26Gln mutation in caveolin3.

PMID 18583131 2008 Caveolinopathy--new mutations and additional symptoms.

PMID 20472890 2010 Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.

PMID 21404291 2011 Rippling is not always electrically silent in rippling muscle disease.

PMID 15580566 2005 Molecular and muscle pathology in a series of caveolinopathy patients.

PMID 14633633 2003 Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.

PMID 11805270 2002 Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

rs116840778 in SSUH2;CAV3 gene and RIPPLING MUSCLE DISEASE 2 (disorder) PMID 12807393 2003 Caveolin-3 gene mutation in Japanese with rippling muscle disease.

PMID 19380584 2009 Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.

PMID 15580566 2005 Molecular and muscle pathology in a series of caveolinopathy patients.

PMID 20472890 2010 Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.

PMID 11756609 2001 A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

PMID 10746614 2000 Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

PMID 12839838 2003 Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.

PMID 12939441 2003 Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

PMID 18930476 2009 Phenotypic variability in a Spanish family with a Caveolin-3 mutation.

PMID 14633633 2003 Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.

PMID 15318349 2004 Phenotypic variability associated with Arg26Gln mutation in caveolin3.

PMID 11805270 2002 Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

PMID 11431690 2001 Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

PMID 21404291 2011 Rippling is not always electrically silent in rippling muscle disease.