X-linked recessive myotubular myopathy with MTM1 mutations

X-linked recessive myotubular myopathy (XLMTM) is a severe congenital muscle disorder caused by mutations in the MTM1 gene and characterized by severe hypotonia and generalized muscle weakness in affected males. It is generally a fatal disorder during the neonatal period and early infancy. The diagn...

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Hlavní autoři: Han, Young-Mi, Kwon, Kyoung-Ah, Lee, Yun-Jin, Nam, Sang-Ook, Park, Kyung-Hee, Byun, Shin-Yun, Kim, Gu-Hwan, Yoo, Han-Wook
Médium: Artigo
Jazyk:Inglês
Vydáno: The Korean Pediatric Society 2013
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3611049/
https://ncbi.nlm.nih.gov/pubmed/23559977
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3345/kjp.2013.56.3.139
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