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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: | , , , , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
The Korean Pediatric Society
2013
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| Témata: | |
| 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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