CAV3, caveolin 3, 859

N. diseases: 163; N. variants: 56
Disease: Rippling muscle disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 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
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Mutations in CAV3 lead to various neuromuscular phenotypes with partial overlap, including limb girdle muscular dystrophy type 1C (LGMD1C), rippling muscle disease, distal myopathy and isolated hyperCKemia. 27312022 2016
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Here, we report a sporadic case of a middle-aged female Chinese patient with MD in which a CAV3 mutation was identical to that previously reported in cases of rippling muscle disease. 26947586 2016
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE 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. 22245016 2012
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE In the present study we examined Ca(2+) homeostasis and excitation-contraction (E-C) coupling in cultured myotubes derived from two patients with Rippling muscle disease with severe reduction in caveolin-3 expression; one patient harboured the heterozygous c.84C>A mutation while the other patient harbored a homozygous splice-site mutation (c.102+ 2T>C) affecting the splice donor site of intron 1 of the CAV3 gene. 21294223 2011
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 Biomarker disease BEFREE An autoimmune basis for rippling muscle disease is supported by spontaneous recovery and normalisation of caveolin-3 staining in one patient and alleviation of symptoms in response to plasmapheresis and immunosuppression in another. 21295981 2011
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 Biomarker disease CTD_human In the present study we examined Ca(2+) homeostasis and excitation-contraction (E-C) coupling in cultured myotubes derived from two patients with Rippling muscle disease with severe reduction in caveolin-3 expression; one patient harboured the heterozygous c.84C>A mutation while the other patient harbored a homozygous splice-site mutation (c.102+ 2T>C) affecting the splice donor site of intron 1 of the CAV3 gene. 21294223 2011
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers. 20229577 2010
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease CLINVAR Rippling muscle disease: variable phenotype in a family with five afflicted members. 19697367 2010
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Molecular studies identified the p.A46V mutation in CAV3 previously reported in a German family with autosomal dominant rippling muscle disease and sudden death in few individuals. 19773168 2009
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 Biomarker disease MGD Muscular dystrophy begins early in embryonic development deriving from stem cell loss and disrupted skeletal muscle formation. 19535499 2009
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Recently a caveolin-3 gene (CAV3) mutation was identified in patients suffering from autosomal dominant RMD. 17524427 2007
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE A novel missense mutation in the caveolin-3 gene in rippling muscle disease. 17405141 2007
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Novel homozygous mutation of the caveolin-3 gene in rippling muscle disease with extraocular muscle paresis. 17537631 2007
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 Biomarker disease BEFREE A case of rippling muscle disease is presented and features of this rare condition, and its association with caveolin-3 are discussed. 16723230 2006
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Mutations in CAV3 gene encoding the protein caveolin-3 are associated with autosomal dominant limb girdle muscular dystrophy 1C, rippling muscle disease, hyperCKemia, distal myopathy, hypertrophic cardiomyopathy and rare autosomal recessive limb girdle muscular dystrophy phenotypes. 16730439 2006
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE A new missense mutation in caveolin-3 gene causes rippling muscle disease. 16458928 2006
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease CLINVAR Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GermlineCausalMutation disease ORPHANET Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. 16247063 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Many cases of RMD are caused by mutations in caveolin-3, and aberrations in the tubular system are commonly observed. 15742369 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 Biomarker disease CTD_human Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation. 16247063 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 Biomarker disease CTD_human Autosomal recessive rippling muscle disease with homozygous CAV3 mutations. 15668980 2005
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE We report a novel heterozygous missense mutation in CAV3 in a Belgian family with autosomal dominant RMD. 15314133 2004
CUI: C1853698
Disease: Rippling muscle disease
Rippling muscle disease 		0.900 GeneticVariation disease BEFREE Caveolin-3 deficiency is a rare, autosomal dominant, muscle disorder caused by caveolin-3 gene (CAV3) mutations and consists of four clinical phenotypes: limb-girdle muscular dystrophy type 1C (LGMD-1C), rippling muscle disease, distal myopathy, and familial hyperCKemia. 15564037 2004