Myopathy with skeletal asymmetry and hemidiaphragm elevation is caused by myotubularin mutations

Neurology

Volumn 64, Issue 9, 2005, Pages 1638-1640

  Grogan, P M ^a,b   Tanner, S M ^c   Orstavik K H ^d,e   Knudsen, G P S ^e   Saperstein, D S ^f   Vogel, H ^a   Barohn, R J ^f   Herbelin, L L ^f   McVey, A L ^f   Katz, J S ^a,b,g  

^a STANFORD UNIVERSITY MEDICAL CENTER   (United States)

^b VA PALO ALTO HEALTH CARE SYSTEM   (United States)

^c OHIO STATE UNIVERSITY   (United States)

^d OSLO UNIVERSITY HOSPITAL   (Norway)

^e UNIVERSITY OF OSLO   (Norway)

^f UNIVERSITY OF KANSAS SCHOOL OF MEDICINE   (United States)

^g VETERANS AFFAIRS MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; DNA DETERMINATION; EXON; FACE ASYMMETRY; FEMALE; GENE; HEMIDIAPHRAGM; HETEROZYGOTE; HUMAN; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUTATION; MYOPATHY; MYOTUBULARIN; PRIORITY JOURNAL; SKELETON MALFORMATION; STOP CODON; X CHROMOSOME INACTIVATION; X RAY;

EID: 20944445442     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000160393.99621.D0     Document Type: Article

References (10)

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