{{Rsnum
|rsid=116840789
|Chromosome=3
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CAV3
|position=8745547
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CAV3,SSUH2
}}{{omim
|id=601253
|rsnum=116840789
|variant=0005
}}{{ClinVar
|rsid=116840789
|Reversed=0
|FwdREF=G
|FwdALT=A,T
|REF=G
|ALT=A,T
|RSPOS=8787233
|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.8787233G>A; NC_000003.11:g.8787233G>T
|CLNORIGIN=33; 1
|CLNSRCID=
CAV3_00005; 601253.0005; CAV3_00065
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000008772.2; RCV000008773.1; RCV000008774.1; RCV000024382.1; RCV000024440.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDBN=Limb-girdle muscular dystrophy, type 1C; Rippling muscle disease 2; Creatine phosphokinase, elevated serum; not provided
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen; GeneReviews:MedGen:OMIM
|CLNDSDBID=NBK1385:C1832567:607801:265; C1832560; NBK1385:C0241005:123320
|CLNSRC=Leiden Muscular Dystrophy pages (CAV3); OMIM Allelic Variant
|Disease=Limb-girdle muscular dystrophy; Rippling muscle disease 2; Creatine phosphokinase; not provided
}}{{PMID Auto
|PMID=11001938
|Title=Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
}}

{{PMID Auto
|PMID=1146501
|Title=A family with dominant hereditary myotonia, muscular hypertrophy, and increased muscular irritability, distinct from myotonia congenita thomsen.
}}

{{PMID Auto
|PMID=10227634
|Title=Phenotypic variability in rippling muscle disease.
}}

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

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

{{PMID Auto
|PMID=12666119
|Title=Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
}}

{{PMID Auto
|PMID=17994539
|Title=Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
}}

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

{{PMID Auto
|PMID=20229577
|Title=Bedside diagnosis of rippling muscle disease in CAV3 p.A46T mutation carriers.
}}