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Three novel MTM1 pathogenic variants identified in Japanese patients with X‐linked myotubular myopathy
BACKGROUND: X‐linked myotubular myopathy (XLMTM) is a form of the severest congenital muscle diseases characterized by marked muscle weakness, hypotonia, and feeding and breathing difficulties in male infants. It is caused by mutations in the myotubularin gene (MTM1). METHODS: Evaluation of clinical...
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| Publicat a: | Mol Genet Genomic Med |
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| Autors principals: | , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
John Wiley and Sons Inc.
2019
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6503166/ https://ncbi.nlm.nih.gov/pubmed/30884204 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.621 |
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