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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
8
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pubmed:dateCreated |
2007-8-16
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pubmed:abstractText |
To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Aug
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pubmed:issn |
0003-9942
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pubmed:author |
pubmed-author:AttarianShahramS,
pubmed-author:BassezGuillaumeG,
pubmed-author:BernardRafaelleR,
pubmed-author:EymardBrunoB,
pubmed-author:Figarella-BrangerDominiqueD,
pubmed-author:KrahnMartinM,
pubmed-author:LévyNicolasN,
pubmed-author:LabelleVéroniqueV,
pubmed-author:LaforêtPascalP,
pubmed-author:LeturcqFranceF,
pubmed-author:NguyenKarineK,
pubmed-author:PougetJeanJ,
pubmed-author:RomeroNormaN,
pubmed-author:UrtizbereaJon AndoniJA
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pubmed:issnType |
Print
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pubmed:volume |
64
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1176-82
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pubmed:meshHeading |
pubmed-meshheading:17698709-Adult,
pubmed-meshheading:17698709-Aged,
pubmed-meshheading:17698709-Arm,
pubmed-meshheading:17698709-Creatine Kinase,
pubmed-meshheading:17698709-Diagnostic Errors,
pubmed-meshheading:17698709-Disease Progression,
pubmed-meshheading:17698709-Female,
pubmed-meshheading:17698709-Humans,
pubmed-meshheading:17698709-Male,
pubmed-meshheading:17698709-Membrane Proteins,
pubmed-meshheading:17698709-Middle Aged,
pubmed-meshheading:17698709-Muscle, Skeletal,
pubmed-meshheading:17698709-Muscle Proteins,
pubmed-meshheading:17698709-Muscular Dystrophies,
pubmed-meshheading:17698709-Muscular Dystrophies, Limb-Girdle,
pubmed-meshheading:17698709-Mutation,
pubmed-meshheading:17698709-Phenotype,
pubmed-meshheading:17698709-Polymyositis,
pubmed-meshheading:17698709-Retrospective Studies,
pubmed-meshheading:17698709-Severity of Illness Index,
pubmed-meshheading:17698709-Tomography, X-Ray Computed
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pubmed:year |
2007
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pubmed:articleTitle |
Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes.
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pubmed:affiliation |
Département de Génétique Médicale, Hôpital Timone, Marseille, France. karine.nguyen@ap-hm.fr
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Multicenter Study
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