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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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| Autori principali: | , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
Korean Neurological Association
2013
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| Soggetti: | |
| Accesso online: | 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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