A multicenter, retrospective medical record review of X-linked myotubular myopathy: The recensus study

Muscle and Nerve

Volumn 57, Issue 4, 2018, Pages 550-560

  Beggs, Alan H ^a   Byrne, Barry J ^b   De Chastonay, Sabine ^c   Haselkorn, Tmirah ^d   Hughes, Imelda ^e   James, Emma S ^f   Kuntz, Nancy L ^g   Simon, Jennifer ^h   Swanson, Lindsay C ^a   Yang, Michele L ⁱ   Yu, Zi Fan ^h   Yum, Sabrina W ^j   Prasad, Suyash ^f  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF FLORIDA   (United States)

^c Cure CMD   (United States)

^d EpiMetrix Inc   (United States)

^e ROYAL MANCHESTER CHILDREN S HOSPITAL   (United Kingdom)

^f Audentes Therapeutics   (United States)

^g CHILDREN'S MEMORIAL HOSPITAL   (United States)

^h University of Iowa   (United States)

ⁱ CHILDREN S HOSPITAL COLORADO   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

centronuclear myopathy; congenital myopathy; disease burden; natural history; retrospective chart review; X linked myotubular myopathy

Indexed keywords

ARTICLE; ASSISTED VENTILATION; CENTRONUCLEAR MYOPATHY; CHILD; CROSS-SECTIONAL STUDY; GENETIC VARIABILITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MEDICAL RECORD REVIEW; MORTALITY; MULTICENTER STUDY; POPULATION RESEARCH; PREMATURE LABOR; PRIORITY JOURNAL; RETROSPECTIVE STUDY; X CHROMOSOME LINKED DISORDER; ADOLESCENT; AGE; ARTIFICIAL VENTILATION; CLINICAL TRIAL; INFANT; MYOPATHY; NEWBORN; PREMATURITY; PRESCHOOL CHILD; STATISTICS AND NUMERICAL DATA; SURGERY; YOUNG ADULT;

ADOLESCENT; AGE FACTORS; CHILD; CHILD, PRESCHOOL; HUMANS; INFANT; INFANT, NEWBORN; MALE; MORTALITY; MYOPATHIES, STRUCTURAL, CONGENITAL; PREMATURE BIRTH; RESPIRATION, ARTIFICIAL; RETROSPECTIVE STUDIES; SURGICAL PROCEDURES, OPERATIVE; YOUNG ADULT;

EID: 85038925035     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.26018     Document Type: Article

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