Toward an objective measure of functional disability in dysferlinopathy

Muscle and Nerve

Volumn 53, Issue 1, 2016, Pages 49-57

  Woudt, Lisanne ^a   Di Capua, Gabriella A ^b   Krahn, Martin ^c,d   Castiglioni, Claudia ^e   Hughes, Ricardo ^a   Campero, Mario ^a   Trangulao, Alejandra ^b   González Hormazábal, Patricio ^b   Godoy Herrera, Raúl ^b   Lévy, Nicolas ^c,d   Urtizberea, Jon Andoni ^f   Jara, Lilian ^b   Bevilacqua, Jorge A ^a,b  

^a HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^b UNIVERSITY OF CHILE   (Chile)

^c AIX MARSEILLE UNIVERSITY   (France)

^d TIMONE HOSPITAL   (France)

^e CLÍNICA LAS CONDES   (Chile)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

Author keywords

DYSF; Dysferlinopathy; Motor function measure; MRC score; Recurrent mutations

Indexed keywords

CREATINE KINASE; DYSF PROTEIN, HUMAN; MEMBRANE PROTEIN; MUSCLE PROTEIN;

ADOLESCENT; ADULT; ARTICLE; CHILD; CHILEAN; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CORRELATION ANALYSIS; CREATINE KINASE BLOOD LEVEL; DISABILITY; DISEASE DURATION; DYSF GENE; DYSFERLINOPATHY; FEMALE; FORCED VITAL CAPACITY; GENE; GENE MUTATION; HUMAN; MALE; MEASUREMENT; MOTOR FUNCTION MEASURE; MUSCLE RESEARCH COUNCIL SCALE; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RANKIN SCALE; RATING SCALE; BLOOD; BREATHING; COHORT ANALYSIS; DISABLED PERSON; ELECTROMYOGRAPHY; GENETICS; LIMB; MOTOR EVOKED POTENTIAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NERVE CONDUCTION; NONPARAMETRIC TEST; PATHOPHYSIOLOGY; PHYSIOLOGY; SKELETAL MUSCLE; SPIROMETRY; VITAL CAPACITY; YOUNG ADULT;

ADOLESCENT; ADULT; COHORT STUDIES; CREATINE KINASE; DISABILITY EVALUATION; DISABLED PERSONS; ELECTROMYOGRAPHY; EVOKED POTENTIALS, MOTOR; EXTREMITIES; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; NEURAL CONDUCTION; RESPIRATION; SPIROMETRY; STATISTICS, NONPARAMETRIC; VITAL CAPACITY; YOUNG ADULT;

EID: 84954382010     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24685     Document Type: Article

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