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Article

A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.

Journal of the neurological sciences - 15 Oct 2016

Kato Hideki, Kokunai Yosuke, Dalle Carine, Kubota Tomoya, Madokoro Yuta, Yuasa Hiroyuki, Uchida Yuto, Ikeda Tomomasa, Mochizuki Hideki, Nicole Sophie, Fontaine Bertrand, Takahashi Masanori P, Mitake Shigehisa

Abstract excerpt

Non-dystrophic myotonias are caused by mutations of either the skeletal muscle chloride (CLCN1) or sodium channel (SCN4A) gene. They exhibit several distinct phenotypes, including myotonia congenita, paramyotonia congenita and sodium channel myotonia, and a genotype-phenotype correlation has been established. However, there are atypical cases that do not fit with the standard classification. We report a case of...

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Identifiers

PMID: 27653901
DOI: 10.1016/j.jns.2016.08.030

Genes

CLCN1

Variants

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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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