Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity

Journal of Medical Genetics

Volumn 49, Issue 1, 2012, Pages 41-46

  Sacconi, Sabrina ^a   Camaño, Pilar ^b,c   de Greef, Jessica C ^d,e   Lemmers, Richard J L F ^d   Salviati, Leonardo ^f   Boileau, Pascal ^g   de Munain Arregui, Adolfo Lopez ^b,c,h,i   van der Maarel, Silvère M ^d   Desnuelle, Claude ^a  

^a UNIVERSITY HOSPITAL OF NICE   (France)

^b BIODONOSTIA HEALTH RESEARCH INSTITUTE   (Spain)

^c INSTITUTO DE SALUD CARLOS III   (Spain)

^d LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY OF IOWA   (United States)

^f UNIVERSITY OF PADOVA   (Italy)

^g CENTRE HOSPITALIER UNIVERSITAIRE DE NICE   (France)

^h HOSPITAL DONOSTIA   (Spain)

ⁱ CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CALPAIN 3; LIM KINASE 1; VALOSIN CONTAINING PROTEIN;

ADULT; ARTICLE; CARDIOVASCULAR FUNCTION; CHROMOSOME 4Q; CLINICAL ARTICLE; COGNITIVE DEFECT; DISEASE COURSE; DISEASE DURATION; DNA METHYLATION; ELECTROMYOGRAPHY; EPIGENETICS; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GEL ELECTROPHORESIS; GENE DELETION; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN TISSUE; MALE; MOSAICISM; MUSCLE BIOPSY; MUSCLE CONTRACTION; MUSCLE WEAKNESS; NEUROPSYCHOLOGICAL TEST; ORBICULARIS OCULI MUSCLE; PAGET BONE DISEASE; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY FUNCTION; SOUTHERN BLOTTING;

ADENOSINE TRIPHOSPHATASES; ADULT; CALPAIN; CELL CYCLE PROTEINS; DNA MUTATIONAL ANALYSIS; EPIGENESIS, GENETIC; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIM DOMAIN PROTEINS; MALE; MIDDLE AGED; MOSAICISM; MUSCLE PROTEINS; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PHENOTYPE;

EID: 84856002086     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100101     Document Type: Article

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