Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients
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DOI: 10.1007/s00415-020-10328-1
Abstract: 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. We retrospectively identified all patients… read more here.
Keywords: ndm scn4a; non dystrophic; ndm clcn1;