New phenotype and pathology features in MYH7-related distal myopathy

Neuromuscular Disorders

Volumn 22, Issue 7, 2012, Pages 640-647

  Tasca, Giorgio ^a   Ricci, Enzo ^b   Penttilä, Sini ^c   Monforte, Mauro ^b   Giglio, Vincenzo ^d   Ottaviani, Pierfrancesco ^e   Camastra, Giovanni ^f   Silvestri, Gabriella ^b   Udd, Bjarne ^c,g,h  

^a IRCCS FONDAZIONE DON CARLO GNOCCHI   (Italy)

^b CATHOLIC UNIVERSITY   (Italy)

^c TAMPERE UNIVERSITY OF TECHNOLOGY   (Finland)

^d Centre for Neuromuscular Diseases   (Italy)

^e LABORATORIO DI PATOLOGIA VASCOLARE   (Italy)

^f Ospedale Madre Giuseppina Vannini   (Italy)

^g UNIVERSITY OF HELSINKI   (Finland)

^h Vasa Central Hospital   (Finland)

Author keywords

Cytoplasmic body; Laing distal myopathy; MYH7; Slow myosin

Indexed keywords

ADULT; AGED; AGING; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL ASSESSMENT; CYTOPLASM; DISEASE SEVERITY; DISTAL MYOPATHY; EXTENSOR MUSCLE; FAMILY STUDY; FEMALE; GENE; GENETIC SCREENING; HEART DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MUSCLE BIOPSY; MUSCLE FIBRIL; MUSCLE WEAKNESS; MYH7 GENE; NEUROPHYSIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PATHOLOGICAL ANATOMY; PATIENT ASSESSMENT; PHENOTYPE; PRIORITY JOURNAL; TOE; WALKING DIFFICULTY;

ADULT; AGED; CARDIAC MYOSINS; DISTAL MYOPATHIES; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; ITALY; MAGNETIC RESONANCE IMAGING; MALE; MICROSCOPY, ELECTRON, TRANSMISSION; MIDDLE AGED; MUSCLE, SKELETAL; MUTATION; MYOSIN HEAVY CHAINS;

EID: 84862229325     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.03.003     Document Type: Article

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