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X-linked Myotubular Myopathy in a Family with Two Infant Siblings: A Case with MTM1 Mutation
X-linked myotubular myopathy (XLMTM) is a rare congenital muscle disorder, caused by mutations in the MTM1 gene. Affected male infants present severe hypotonia, and generalized muscle weakness, and the disorder is most often complicated by respiratory failure. Herein, we describe a family with 2 inf...
| Autores principales: | , , , , , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
Yonsei University College of Medicine
2011
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3101044/ https://www.ncbi.nlm.nih.gov/pubmed/21488203 http://dx.doi.org/10.3349/ymj.2011.52.3.547 |