×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
Biomarker
disease
CTD_human
229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017.
30055862
2018
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
CLINVAR
Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.
27854218
2016
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
Biomarker
disease
CTD_human
Alterations of excitation-contraction coupling and excitation coupled Ca(2+) entry in human myotubes carrying CAV3 mutations linked to rippling muscle.
21294223
2011
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
CLINVAR
Rippling is not always electrically silent in rippling muscle disease.
21404291
2011
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
CLINVAR
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
20472890
2010
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
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
0.700
CausalMutation
disease
CLINVAR
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
18930476
2009
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
UNIPROT
A new missense mutation in caveolin-3 gene causes rippling muscle disease.
16458928
2006
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
CLINVAR
Molecular and muscle pathology in a series of caveolinopathy patients.
15580566
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
UNIPROT
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
15668980
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
Biomarker
disease
CTD_human
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
15668980
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
UNIPROT
Molecular and muscle pathology in a series of caveolinopathy patients.
15580566
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
Biomarker
disease
CTD_human
Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.
16247063
2005
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
CLINVAR
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
15318349
2004
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
UNIPROT
Two novel CAV3 gene mutations in Japanese families.
15564037
2004
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
UNIPROT
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
12666119
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
CLINVAR
Phenotypic behavior of caveolin-3 R26Q, a mutant associated with hyperCKemia, distal myopathy, and rippling muscle disease.
12839838
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
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
0.700
CausalMutation
disease
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
0.700
GeneticVariation
disease
UNIPROT
Consequences of a novel caveolin-3 mutation in a large German family.
12557291
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
GeneticVariation
disease
UNIPROT
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
0.700
CausalMutation
disease
CLINVAR
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
12807393
2003
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
CLINVAR
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
11805270
2002
×
Entrez Id:
859
Gene Symbol:
CAV3
CAV3
0.700
CausalMutation
disease
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
0.700
GeneticVariation
disease
UNIPROT
The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.
11532985
2001