Large duplication in MTM1 associated with myotubular myopathy.
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ABSTRACT:
SUBMITTER: Amburgey K
PROVIDER: S-EPMC3594803 | biostudies-literature | 2013 Mar
REPOSITORIES: biostudies-literature
Publications
Large duplication in MTM1 associated with myotubular myopathy.
Amburgey K K Lawlor M W MW Del Gaudio D D Cheng Y W YW Fitzpatrick C C Minor A A Li X X Aughton D D Das S S Beggs A H AH Dowling J J JJ
Neuromuscular disorders : NMD 20121228 3
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 ...[more]
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