A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

Jarry, J; Rioux, M F; Bolduc, V; Robitaille, Y; Khoury, V; Thiffault, I; Tétreault, M; Loisel, L; Bouchard, J P; Brais, B

Jarry, J; Rioux, M F; Bolduc, V; Robitaille, Y; Khoury, V; Thiffault, I; Tétreault, M; Loisel, L; Bouchard, J P; Brais, B.

Affiliation

Jarry J; Neurogenetics of Locomotion Laboratory, Centre de Recherche du Centre Hospitalier de l'Université de Montréal, Montréal, Quebec, Canada.

Brain ; 130(Pt 2): 368-80, 2007 Feb.

Article in En | MEDLINE | ID: mdl-17008331

Subject(s)

Chromosomes, Human, Pair 11/genetics; Muscular Atrophy/genetics; Muscular Dystrophies, Limb-Girdle/genetics; Adult; Aged; Chromosome Mapping/methods; Female; Genes, Recessive; Haplotypes; Humans; Lod Score; Magnetic Resonance Imaging; Male; Middle Aged; Muscle, Skeletal/ultrastructure; Muscular Atrophy/etiology; Muscular Atrophy/pathology; Muscular Dystrophies, Limb-Girdle/complications; Muscular Dystrophies, Limb-Girdle/pathology; Mutation; Pedigree; Phenotype

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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomes, Human, Pair 11 / Muscular Atrophy / Muscular Dystrophies, Limb-Girdle Type of study: Etiology_studies / Prognostic_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: En Journal: Brain Year: 2007 Document type: Article

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