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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Bibliografiska uppgifter
I publikationen:J Neuromuscul Dis
Huvudupphovsmän: Gangfuss, Andrea, Schmitt, Dirk, Roos, Andreas, Braun, Frederik, Annoussamy, Melanie, Servais, Laurent, Schara-Schmidt, Ulrike
Materialtyp: Artigo
Språk:Inglês
Publicerad: IOS Press 2021
Ämnen:
Research Report
Länkar: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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