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Article

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.

European journal of human genetics : EJHG - 1 Jun 2014

Zhao Hui, Race Valérie, Matthijs Gert, De Jonghe Peter, Robberecht Wim, Lambrechts Diether, Van Damme Philip

Abstract excerpt

Distal hereditary motor neuropathies (dHMNs) are a heterogenous group of genetic disorders with length-dependent degeneration of motor axons. Obtaining a genetic diagnosis in patients with dHMN remains challenging. We performed exome sequencing in a diagnostic setting in 12 patients with a clinical diagnosis of dHMN. Potential disease-causing variants in genes associated with dHMN and other forms of inherited...

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Source

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Identifiers

PMID: 24105373
DOI: 10.1038/ejhg.2013.231
PMCID: PMC4023208

Genes

HINT1

Provenance

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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