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Clinical and genetic spectrum of a Chinese cohort with SCN4A gene mutations.

Neuromuscular disorders : NMD - 1 Sept 2021

Sun J, Luo S, Suetterlin K J, Song J, Huang J, Zhu W, Xi J, Zhou L, Lu J, Lu J, Zhao C, Hanna M G, Männikkö R, Matthews E, Qiao K

Abstract excerpt

Skeletal muscle sodium channelopathies due to SCN4A gene mutations have a broad clinical spectrum. However, each phenotype has been reported in few cases of Chinese origin. We present detailed phenotype and genotype data from a cohort of 40 cases with SCN4A gene mutations seen in neuromuscular diagnostic service in Huashan hospital, Fudan University. Cases were referred from 6 independent provinces from 2010 to...

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PMID: 33965302
DOI: 10.1016/j.nmd.2021.03.014

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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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