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http://purl.uniprot.org/citations/11431690http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11431690http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11431690http://www.w3.org/2000/01/rdf-schema#comment"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."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.org/dc/terms/identifier"doi:10.1038/90050"xsd:string
http://purl.uniprot.org/citations/11431690http://purl.org/dc/terms/identifier"doi:10.1038/90050"xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Lee Y.-A."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Lee Y.-A."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Nothen M.M."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Nothen M.M."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Propping P."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Propping P."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Betz R.C."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Betz R.C."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Wienker T.F."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Wienker T.F."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Ramirez A."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Ramirez A."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Kubisch C."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Kubisch C."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Torbergsen T."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Torbergsen T."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Reis A."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Reis A."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Jentsch T.J."xsd:string
http://purl.uniprot.org/citations/11431690http://purl.uniprot.org/core/author"Jentsch T.J."xsd:string