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Article

Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.

Journal of neurology - 1 Dec 2022

Yuan Jun-Hui, Higuchi Yujiro, Hashiguchi Akihiro, Ando Masahiro, Yoshimura Akiko, Nakamura Tomonori, Sakiyama Yusuke, Takashima Hiroshi

Abstract excerpt

Non-dystrophic myotonias (NDM) are rare skeletal muscle channelopathies, mainly linked to two voltage-gated ion channel genes, CLCN1 and SCN4A. The aim of this study is to identify the clinical and genetic features of patients with NDM in Japan. We collected a Japanese nationwide case series of patients with clinical diagnosis of NDM (1999-2021). Among 71 out of 88 pedigrees, using Sanger and next-generation...

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PMID: 35907044
DOI: 10.1007/s00415-022-11305-6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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