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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2001-6-29
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pubmed:abstractText |
Hereditary rippling muscle disease (RMD) is an autosomal dominant human disorder characterized by mechanically triggered contractions of skeletal muscle. Genome-wide linkage analysis has identified an RMD locus on chromosome 3p25. We found missense mutations in positional candidate CAV3 (encoding caveolin 3; ref. 5) in all five families analyzed. Mutations in CAV3 have also been described in limb-girdle muscular dystrophy type 1C (LGMD1C; refs. 6,7), demonstrating the allelism of dystrophic and non-dystrophic muscle diseases.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:BetzR CRC,
pubmed-author:JentschT JTJ,
pubmed-author:KasperDD,
pubmed-author:KubischCC,
pubmed-author:MalinJ PJP,
pubmed-author:MortierWW,
pubmed-author:NöthenM MMM,
pubmed-author:ProppingPP,
pubmed-author:RamírezAA,
pubmed-author:ReidRR,
pubmed-author:RickerKK,
pubmed-author:SchoserB GBG,
pubmed-author:SteinVV,
pubmed-author:TorbergsenTT,
pubmed-author:VorgerdMM,
pubmed-author:WienkerT FTF,
pubmed-author:ZhuM DMD
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pubmed:issnType |
Print
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pubmed:volume |
28
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
218-9
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pubmed:dateRevised |
2005-11-17
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pubmed:meshHeading |
pubmed-meshheading:11431690-Caveolin 3,
pubmed-meshheading:11431690-Caveolins,
pubmed-meshheading:11431690-Creatine Kinase,
pubmed-meshheading:11431690-Cytoskeletal Proteins,
pubmed-meshheading:11431690-Humans,
pubmed-meshheading:11431690-Membrane Glycoproteins,
pubmed-meshheading:11431690-Muscle, Skeletal,
pubmed-meshheading:11431690-Muscle Contraction,
pubmed-meshheading:11431690-Muscular Diseases,
pubmed-meshheading:11431690-Muscular Dystrophies,
pubmed-meshheading:11431690-Mutation, Missense,
pubmed-meshheading:11431690-Physical Stimulation
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pubmed:year |
2001
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pubmed:articleTitle |
Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
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pubmed:affiliation |
Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany.
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pubmed:publicationType |
Journal Article
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