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Article

A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.

Muscle & nerve - 1 Dec 2015

Jerath Nivedita U, Shy Michael E, Grider Tiffany, Gutmann Ludwig

Abstract excerpt

INTRODUCTION: HINT1 mutations cause an autosomal recessive distal hereditary motor axonal neuropathy with neuromyotonia. This is a case report of a HINT1 mutation in the United States. METHODS: A 30-year-old man of Slovenian heritage and no significant family history presented with scoliosis as a child and later developed neuromyotonia and distal weakness. Electrodiagnostic testing revealed an axonal motor...

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Source

Identifiers

PMID: 26182879
DOI: 10.1002/mus.24774

Genes

HINT1
CLCN1
EGR2
LMNA
MPZ

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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A case of neuromyotonia and axonal motor neuropathy: A report of a HINT1 mutation in the United States.PMID 26182879Read ↗

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

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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HINT1 gene pathogenic variants: the most common cause of recessive hereditary motor and sensory neuropathies in Russian patients.Semantic proximity Read ↗

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

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.Semantic proximity Read ↗

Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.Semantic proximity Read ↗

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.Semantic proximity Read ↗

A novel mutation in HINT1 gene causes autosomal recessive axonal neuropathy with neuromyotonia, effective treatment with carbamazepine and review of the literature.Semantic proximity Read ↗

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