{{Rsnum
|rsid=116840778
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CAV3
|position=8733956
|Gene_s=CAV3
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{omim
|id=601253
|rsnum=116840778
|variant=0007
}}{{ClinVar
|rsid=116840778
|Reversed=0
|FwdREF=G
|FwdALT=A,C
|REF=G
|ALT=A,C
|RSPOS=8775642
|CHROM=3
|dbSNPBuildID=132
|SSR=0
|SAO=3
|VP=0x050168000000000002110100
|GENEINFO=CAV3:859
|GENE_NAME=CAV3
|GENE_ID=859
|WGT=0
|VC=SNV
|CLNALLE=1; 2
|CLNHGVS=NC_000003.11:g.8775642G>A; NC_000003.11:g.8775642G>C
|CLNORIGIN=33; 1
|CLNSRCID=
CAV3_00007; 601253.0007; CAV3_00063
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000008776.1; RCV000008777.1; RCV000008778.2; RCV000023083.1; RCV000024438.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDBN=Rippling muscle disease 2; Creatine phosphokinase, elevated serum; Limb-girdle muscular dystrophy, type 1C; Distal myopathy, Tateyama type; not provided
|CLNDSDB=MedGen; GeneReviews:MedGen:OMIM; GeneReviews:MedGen:OMIM:Orphanet; MedGen:OMIM
|CLNDSDBID=C1832560; NBK1385:C0241005:123320; NBK1385:C1832567:607801:265; CN118020:614321
|CLNSRC=Leiden Muscular Dystrophy pages (CAV3); OMIM Allelic Variant
|Disease=Rippling muscle disease 2; Creatine phosphokinase; Limb-girdle muscular dystrophy; Distal myopathy; not provided
}}{{PMID Auto
|PMID=10746614
|Title=Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
}}

{{PMID Auto
|PMID=15580566
|Title=Molecular and muscle pathology in a series of caveolinopathy patients.
}}

{{PMID Auto
|PMID=11756609
|Title=A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
}}

{{PMID Auto
|PMID=12269726
|Title=Rippling muscle disease in childhood.
}}

{{PMID Auto
|PMID=12807393
|Title=Caveolin-3 gene mutation in Japanese with rippling muscle disease.
}}

{{PMID Auto
|PMID=15318349
|Title=Phenotypic variability associated with Arg26Gln mutation in caveolin3.
}}

{{PMID Auto
|PMID=12939441
|Title=Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
}}

{{PMID Auto
|PMID=11805270
|Title=Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
}}

{{PMID Auto
|PMID=11353417
|Title=Rippling muscle disease: evidence for phenotypic and genetic heterogeneity.
}}

{{PMID Auto
|PMID=11431690
|Title=Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
}}

{{PMID Auto
|PMID=16723230
|Title=Rippling muscle disease.
}}

{{PMID Auto
|PMID=17897828
|Title=Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
}}

{{PMID Auto
|PMID=18583131
|Title=Caveolinopathy--new mutations and additional symptoms.
}}