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Article

Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia.

Neuromuscular disorders : NMD - 1 Oct 2022

Ke Qing, Zhao Youcheng, Li Yuezhou, Ye Jia, Tang Siyang, He Fangping, Ji Fang, Dai Xuejiao, Ni Jie, Li Yi, Griggs Robert C, Cheng Xiaoyang

Abstract excerpt

The non-dystrophic myotonias are inherited skeletal muscle disorders characterized by skeletal muscle stiffness after voluntary contraction, without muscle atrophy. Based on their clinical features, non-dystrophic myotonias are classified into myotonia congenita, paramyotonia congenita, and sodium channel myotonia. Using whole-exome next-generation sequencing, we identified a L703P mutation (c.2108T>C, p.L703P)...

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PMID: 36050252
DOI: 10.1016/j.nmd.2022.08.004

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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