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Article

Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.

Journal of neurology - 1 May 2021

Vereb Noemi, Montagnese Federica, Gläser Dieter, Schoser Benedikt

Abstract excerpt

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 in our center. The following data were analyzed: demographics, family history, muscular features, cardiac...

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Identifiers

PMID: 33263785
DOI: 10.1007/s00415-020-10328-1
PMCID: PMC8068660

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