X-linked myotubular myopathy in a female infant caused by a new MTM1 gene mutation

Neurology

Volumn 60, Issue 8, 2003, Pages 1363-1365

  Schara, Ulrike ^a   Kress, Wolfram ^b   Tücke, Jens ^a   Mortier, Wilhelm ^a  

^a RUHR UNIVERSITY BOCHUM   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CASE REPORT; CENTRONUCLEAR MYOPATHY; CLINICAL FEATURE; DNA ISOLATION; DNA METHYLATION; FEMALE; GENE; GENE MUTATION; HUMAN; HUMAN TISSUE; MTM1 GENE; MUSCLE BIOPSY; ONSET AGE; PHYSIOTHERAPY; PRESCHOOL CHILD; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0037461284     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000058763.90924.FA     Document Type: Article

References (10)

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8. Mandel JL, Laporte J, Buj-Bello A, Sewry C, Wallgren-Petterson C. X-linked myotubular myopathy. In: Karpati G, ed. Structural and molecular basis of skeletal muscle diseases. Basel: ISN Neuropath Press, 2002;124-129.
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