Large duplication in MTM1 associated with myotubular myopathy

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 o...

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Autori principali: Amburgey, K., Lawlor, M.W., del Gaudio, D., Cheng, Y.W., Fitzpatrick, C., Minor, A., Li, X., Aughton, D., Das, S., Beggs, A.H., Dowling, J.J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2012
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3594803/
https://ncbi.nlm.nih.gov/pubmed/23273872
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.11.010
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