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Article

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

Muscle & nerve - 1 Oct 2015

Boaretto Francesca, Cacciavillani Mario, Mostacciuolo Maria Luisa, Spalletta Ambra, Piscosquito Giuseppe, Pareyson Davide, Vazza Giovanni, Briani Chiara

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Identifiers

PMID: 26059562
DOI: 10.1002/mus.24720

Genes

HINT1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel loss-of-function mutation of the HINT1 gene in a patient with distal motor axonal neuropathy without neuromyotonia.PMID 26059562Read ↗

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 ↗

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

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

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

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

HINT1 founder mutation causing axonal neuropathy with neuromyotonia in South America: A case report.Semantic proximity Read ↗

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

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

Structural clustering and functional profiling of NMAN-causing variants in HINT1 suggest personalized therapeutic strategiesSemantic 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 ↗

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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