Skeletal muscle pathology in X-linked myotubular myopathy: Review with cross-species comparisons

Journal of Neuropathology and Experimental Neurology

Volumn 75, Issue 2, 2016, Pages 102-110

  Lawlor, Michael W ^a   Beggs, Alan H ^b   Buj Bello, Ana ^c   Childers, Martin K ^d   Dowling, James J ^e   James, Emma S ^f   Meng, Hui ^a   Moore, Steven A ^g   Prasad, Suyash ^f   Schoser, Benedikt ^h   Sewry, Caroline A ^i,j  

^a MEDICAL COLLEGE OF WISCONSIN   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c GÉNÉTHON   (France)

^d UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f Audentes Therapeutics   (United States)

^g UNIVERSITY OF IOWA   (United States)

^h LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^j ROBERT JONES AND AGNES HUNT ORTHOPAEDIC HOSPITAL   (United Kingdom)

more..

Author keywords

Centronuclear; Congenital; Hypotrophy; Myopathy; Myotubular; Myotubularin; Sarcotubular

Indexed keywords

MYOTUBULARIN; PROTEIN; UNCLASSIFIED DRUG;

CENTRONUCLEAR MYOPATHY; DOG; HUMAN; MOUSE MODEL; NONHUMAN; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN FUNCTION; REVIEW; SKELETAL MUSCLE; X CHROMOSOME RECESSIVE DISORDER; X LINKED MYOTUBULAR MYOPATHY; ZEBRA FISH; ANIMAL; COMPARATIVE STUDY; DISEASE MODEL; MYOPATHY; PATHOLOGY; SPECIES DIFFERENCE;

ANIMALS; DISEASE MODELS, ANIMAL; HUMANS; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; SPECIES SPECIFICITY;

EID: 84960448751     PISSN: 00223069     EISSN: 15546578     Source Type: Journal    
DOI: 10.1093/jnen/nlv020     Document Type: Review

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