Two Cases of X-Linked Myotubular Myopathy with Novel MTM1 Mutations

BACKGROUND: Myotubular myopathy (MTM) is a congenital myopathy characterized by centrally placed nuclei in muscle fibers. Mutations in the myotubularin 1 gene (MTM1) have been identified in the most of the patients with the X-linked recessive form. CASE REPORT: This report describes two male infants...

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Detaylı Bibliyografya
Asıl Yazarlar: Lee, Eun Hye, Yum, Mi-Sun, Park, Seong Jong, Lee, Beom Hee, Kim, Gu-Hwan, Yoo, Han-Wook, Ko, Tae-Sung
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Korean Neurological Association 2013
Konular:
Case Report
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC3543911/
https://ncbi.nlm.nih.gov/pubmed/23346162
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3988/jcn.2013.9.1.57
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