| pubmed-article:11431690 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C0242692 | lld:lifeskim |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C0233480 | lld:lifeskim |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C0026882 | lld:lifeskim |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C1853698 | lld:lifeskim |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C1413146 | lld:lifeskim |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C0443254 | lld:lifeskim |
| pubmed-article:11431690 | lifeskim:mentions | umls-concept:C1524003 | lld:lifeskim |
| pubmed-article:11431690 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:11431690 | pubmed:dateCreated | 2001-6-29 | lld:pubmed |
| pubmed-article:11431690 | 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. | lld:pubmed |
| pubmed-article:11431690 | pubmed:language | eng | lld:pubmed |
| pubmed-article:11431690 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:11431690 | pubmed:citationSubset | IM | lld:pubmed |
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| pubmed-article:11431690 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:11431690 | pubmed:month | Jul | lld:pubmed |
| pubmed-article:11431690 | pubmed:issn | 1061-4036 | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:SteinVV | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:RamírezAA | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:RickerKK | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:ReidRR | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:ProppingPP | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:MalinJ PJP | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:WienkerT FTF | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:TorbergsenTT | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:MortierWW | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:ZhuM DMD | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:JentschT JTJ | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:NöthenM MMM | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:KasperDD | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:VorgerdMM | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:KubischCC | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:SchoserB GBG | lld:pubmed |
| pubmed-article:11431690 | pubmed:author | pubmed-author:BetzR CRC | lld:pubmed |
| pubmed-article:11431690 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:11431690 | pubmed:volume | 28 | lld:pubmed |
| pubmed-article:11431690 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:11431690 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:11431690 | pubmed:pagination | 218-9 | lld:pubmed |
| pubmed-article:11431690 | pubmed:dateRevised | 2005-11-17 | lld:pubmed |
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| pubmed-article:11431690 | pubmed:year | 2001 | lld:pubmed |
| pubmed-article:11431690 | pubmed:articleTitle | Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease. | lld:pubmed |
| pubmed-article:11431690 | pubmed:affiliation | Institut für Humangenetik, Universität Bonn, Wilhelmstrasse 31, D-53111, Bonn, Germany. | lld:pubmed |
| pubmed-article:11431690 | pubmed:publicationType | Journal Article | lld:pubmed |
| entrez-gene:859 | entrezgene:pubmed | pubmed-article:11431690 | lld:entrezgene |
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