Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

Neuromuscular Disorders

Volumn 23, Issue 12, 2013, Pages 1010-1015

  Fiorillo, Chiara ^a   Moro, Francesca ^a   Astrea, Guja ^a   Morales, Maria Aurora ^b   Baldacci, Jacopo ^a   Marchese, Maria ^a   Scapolan, Sara ^c   Bruno, Claudio ^c   Battini, Roberta ^a   Santorelli, Filippo M ^a  

^a DEPARTMENT OF DEVELOPMENTAL NEUROSCIENCE   (Italy)

^b INSTITUTE OF CLINICAL PHYSIOLOGY   (Italy)

^c G GASLINI INSTITUTE   (Italy)

Author keywords

Alpha dystroglycan; Cardiomyopathy; Fukutin gene; HyperCKemia; Mutations

Indexed keywords

ALPHA DYSTROGLYCAN; CREATINE KINASE; FUKUTIN;

ARTICLE; BRAIN DISEASE; CARDIOVASCULAR DISEASE; CARDIOVASCULAR SYSTEM EXAMINATION; CASE REPORT; CHILD; DISEASE DURATION; ECHOCARDIOGRAPHY; EYE DISEASE; FOLLOW UP; FUKUTIN GENE; GENE MUTATION; GENETIC ANALYSIS; HEART LEFT VENTRICLE FUNCTION; HUMAN; HYPERCKEMIA; MALE; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCULAR DYSTROPHY; PRIORITY JOURNAL; SCHOOL CHILD;

ALPHA-DYSTROGLYCAN; CARDIOMYOPATHY; FUKUTIN GENE; HYPERCKEMIA; MUTATIONS;

CARDIOMYOPATHIES; CHILD; COBBLESTONE LISSENCEPHALY; CREATINE KINASE; DYSTONIA; DYSTROGLYCANS; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION;

EID: 84888424127     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.09.010     Document Type: Article

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