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Article

Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.

Neurogenetics - 1 Jan 2015

Laššuthová P, Brožková D Šafka, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dvořáčková N, Goldenberg Z, Seeman P

Abstract excerpt

Mutations in the HINT1 gene were recently discovered as being the major cause of autosomal recessive axonal neuropathy with neuromyotonia. This combination was clinically recognized and described previously in a few reports but is generally unknown. We aimed to establish the importance of HINT1 m...

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Source

Identifiers

PMID: 25342199
DOI: 10.1007/s10048-014-0427-8

Genes

HINT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25342199-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Mutations in HINT1 are one of the most frequent causes of hereditary neuropathy among Czech patients and neuromyotonia is rather an underdiagnosed symptom.PMID 25342199Read ↗

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Novel mutations in HINT1 gene cause autosomal recessive axonal neuropathy with neuromyotonia in two cases of sensorimotor neuropathy and one case of motor neuropathy.Semantic proximity Read ↗

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Novel mutations in HINT1 gene cause the autosomal recessive axonal neuropathy with neuromyotonia.Semantic proximity Read ↗

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.Semantic proximity Read ↗

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