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Article

Whole-exome sequencing identifies a heterozygous mutation in SLC12A6 associated with hereditary sensory and motor neuropathy.

Neuromuscular disorders : NMD - 1 Feb 2021

Shi Jiaying, Zhao Fei, Pang Xiaomin, Huang Shan, Wang Juan, Chang Xueli, Zhang Jing, Liu Yanming, Guo Junhong, Zhang Wei

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) represents a phenotypically and genetically heterogeneous disorder of the peripheral nervous system. Biallelic variants in SLC12A6 have been reported as the cause of autosomal-recessive (AR) hereditary motor and sensory neuropathy with agenesis of the corpus callosum (HMSN/ACC). Here we identified an autosomal-dominant (AD) heterozygous mutation in SLC12A6 in a Chinese patient...

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Identifiers

PMID: 33323309
DOI: 10.1016/j.nmd.2020.11.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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