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...

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Detalles Bibliográficos
Autores principales: Vereb, Noemi, Montagnese, Federica, Gläser, Dieter, Schoser, Benedikt
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Communication
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

Internet

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

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