×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Rippling is not always electrically silent in rippling muscle disease.
21404291
2011
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.
20472890
2010
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
19380584
2009
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Phenotypic variability in a Spanish family with a Caveolin-3 mutation.
18930476
2009
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Caveolinopathy--new mutations and additional symptoms.
18583131
2008
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Molecular and muscle pathology in a series of caveolinopathy patients.
15580566
2005
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Phenotypic variability associated with Arg26Gln mutation in caveolin3.
15318349
2004
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Caveolin-3 gene mutation in Japanese with rippling muscle disease.
12807393
2003
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
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:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
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:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
11805270
2002
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
11756609
2001
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
11431690
2001
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
CausalMutation
disease
CLINVAR
Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
10746614
2000
×
Entrez Id:
51066
Gene Symbol:
SSUH2
SSUH2
0.100
GeneticVariation
disease
CLINVAR