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Article

HINT1 neuropathy: Expanding the genotype and phenotype spectrum.

Clinical genetics - 1 Nov 2022

Morel Victor, Campana-Salort Emmanuelle, Boyer Amandine, Esselin Florence, Walther-Louvier Ulrike, Querin Giorgia, Latour Philippe, Lia Anne-Sophie, Magdelaine Corinne, Beze-Beyrie Pierre, Behin Anthony, Delague Valérie, Levy Nicolas, Stojkovic Tanya, Attarian Shahram, Bonello-Palot Nathalie

Abstract excerpt

Inherited peripheral neuropathy (IPN) is a heterogeneous group of disorders due to pathogenic variation in more than 100 genes. In 2012, the first cases of IPN associated with HINT1 pathogenic variations were described in 33 families sharing the same phenotype characterized by an axonal neuropathy with neuromyotonia and autosomal recessive inheritance (NMAN: OMIM #137200). Histidine Triad Nucleotide Binding...

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Identifiers

PMID: 35882622
DOI: 10.1111/cge.14198

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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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