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Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients
INTRODUCTION: Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by mutations in CLCN1 and SCN4A. The study aimed to describe the clinical and genetic spectrum of NDM in a large German cohort. METHODS: We retrospectively identified all patients with genetically confirmed NDM diagnosed...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Springer Berlin Heidelberg
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8068660/ https://www.ncbi.nlm.nih.gov/pubmed/33263785 http://dx.doi.org/10.1007/s00415-020-10328-1 |