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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
मुख्य लेखकों: 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.
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: 2012
विषय:
Article
ऑनलाइन पहुंच: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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