期刊
NEUROMUSCULAR DISORDERS
卷 23, 期 3, 页码 214-218出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2012.11.010
关键词
Myotubular myopathy; Congenital myopathy; MTM1; Gene duplication; Diagnostic testing
资金
- NIH [K08 AR054835, MDA186999, R01 AR044345, MDA 201302]
- Taubman Medical Institute
- Lee and Penny Anderson Family Foundation
- [K08 AR059750]
- [L40 AR057721]
Myotubular myopathy is a subtype of centronuclear myopathy with X-linked inheritance and distinctive clinical and pathologic features. Most boys with myotubular myopathy have MTM1 mutations. In remaining individuals, it is not clear if disease is due to an undetected alteration in MTM1 or mutation of another gene. We describe a boy with myotubular myopathy but without mutation in MTM1 by conventional sequencing. Array-CGH analysis of MTM1 uncovered a large MTM1 duplication. This finding suggests that at least some unresolved cases of myotubular myopathy are due to duplications in MTM1, and that array-CGH should be considered when MTM1 sequencing is unrevealing. (C) 2012 Elsevier B.V. All rights reserved.
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