×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
GeneticVariation
CLINVAR
CAV3 mutation in a patient with transient hyperCKemia and myalgia.
27772553
2017
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
GeneticVariation
CLINVAR
Myotonia associated with caveolin-3 mutation.
22581547
2012
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Rippling is not always electrically silent in rippling muscle disease.
21404291
2011
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
20472890
2010
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
19380584
2009
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
18930476
2009
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Caveolinopathy--new mutations and additional symptoms.
18583131
2008
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
GeneticVariation
CLINVAR
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
15668980
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Molecular and muscle pathology in a series of caveolinopathy patients.
15580566
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
15318349
2004
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
GeneticVariation
CLINVAR
A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.
15099591
2004
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
GeneticVariation
CLINVAR
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
12666119
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
12807393
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
12939441
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.
14633633
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
11805270
2002
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
11756609
2001
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
11431690
2001
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
Long QT Syndrome
0.190
CausalMutation
CLINVAR
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
10746614
2000