Clinical heterogeneity and a high proportion of novel mutations in a chinese cohort of patients with dysferlinopathy

Neurology India

Volumn 62, Issue 6, 2014, Pages 635-639

  Xi, Jianying ^a   Blandin, Gaëlle ^b,c   Lu, Jiahong ^a   Luo, Sushan ^a   Zhu, Wenhua ^a   Béroud, Christophe ^b,c,d   Pécheux, Christophe ^d   Labelle, Véronique ^d   Lévy, Nicolas ^b,c,d   Urtizberea, Jon Andoni ^e   Zhao, Chongbo ^a   Krahn, Martin ^b,c,d  

^a FUDAN UNIVERSITY   (China)

^b AIX MARSEILLE UNIVERSITY   (France)

^c INSERM   (France)

^d TIMONE HOSPITAL   (France)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

Distal anterior compartment myopathy; Dysferlin; Limb girdle muscular dystrophy; Miyoshi myopathy; Mutation; Western blot

Indexed keywords

CALPAIN 3; CREATINE KINASE; DYSFERLIN; CRESOL; DRUG COMBINATION; DYSF PROTEIN, HUMAN; FORMALDEHYDE; MEMBRANE PROTEIN; MUSCLE PROTEIN; PHENOALDEHYDE; RESORCINOL DERIVATIVE;

ADOLESCENT; ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; CREATINE KINASE BLOOD LEVEL; DISTAL ANTERIOR COMPARTMENT MYOPATHY; DYSFERLINOPATHY; EXERCISE; FEMALE; FUNCTIONAL STATUS; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC HETEROGENEITY; HETEROZYGOTE DETECTION; HOMOZYGOTE; HUMAN; HYPERCREATINEPHOSPHOKINESEMIA; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MIDDLE AGED; MIYOSHI MYOPATHY; MOLECULAR DIAGNOSIS; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; OPEN READING FRAME; PHENOTYPE; PROTEIN ANALYSIS; PROTEIN EXPRESSION; WESTERN BLOTTING; YOUNG ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; DISTAL MYOPATHY; DRUG COMBINATION; GENETICS; MUSCLE ATROPHY; MUTATION;

ADOLESCENT; ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; CRESOLS; DISTAL MYOPATHIES; DRUG COMBINATIONS; FEMALE; FORMALDEHYDE; GENETIC HETEROGENEITY; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR ATROPHY; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; RESORCINOLS; YOUNG ADULT;

EID: 84921989066     PISSN: 00283886     EISSN: 19984022     Source Type: Journal    
DOI: 10.4103/0028-3886.149386     Document Type: Article

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