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Article

Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.

European journal of medical genetics - 1 Mar 2019

Wang Zhangyang, Lin Jie, Qiao Kai, Cai Shuang, Zhang Victor W, Zhao Chongbo, Lu Jiahong

Abstract excerpt

Autosomal recessive axonal neuropathy with neuromyotonia (ARAN-NM) is a rare form of hereditary neuropathy. Mutations in HINT1 gene have been identified to be the cause of this disorder. We report two unrelated patients who presented gait impairment, progressive distal muscle weakness and atrophy, neuromyotonia and foot deformities. Electrophysiological studies showed axonal motor neuropathy and neuromyotonic...

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Source

Identifiers

PMID: 30006059
DOI: 10.1016/j.ejmg.2018.07.009

Genes

HINT1

Provenance

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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