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Diagnosing X-linked Myotubular Myopathy – A German 20-year Follow Up Experience
X-linked myotubular myopathy (XLMTM) is a life-threatening rare neuromuscular disease, which is caused by pathogenic variants in the MTM1 gene. It has a large phenotypic heterogeneity, ranging from patients, who are able to walk independently to immobile patients who are only able to bring hand to m...
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| Publicado no: | J Neuromuscul Dis |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
IOS Press
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7902950/ https://ncbi.nlm.nih.gov/pubmed/33164942 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3233/JND-200539 |
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