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Article

HINT1 neuropathy in Lithuania: clinical, genetic, and functional profiling.

Orphanet journal of rare diseases - 14 Oct 2022

Malcorps Matilde, Amor-Barris Silvia, Burnyte Birute, Vilimiene Ramune, Armirola-Ricaurte Camila, Grigalioniene Kristina, Ekshteyn Alexandra, Morkuniene Ausra, Vaitkevicius Arunas, De Vriendt Els, Baets Jonathan, Scherer Steven S, Ambrozaityte Laima, Utkus Algirdas, Jordanova Albena, Peeters Kristien

Abstract excerpt

BACKGROUND: Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HINT1 mutations are among the most common causes of recessive neuropathy. The majority of patients are compound heterozygous or homozygous for a Slavic founder variant (c.110G>C, p.Arg37Pro) that...

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Identifiers

PMID: 36242072
DOI: 10.1186/s13023-022-02541-0
PMCID: PMC9569031

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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.

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