Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

doi:10.1111/ene.14700

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Article

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation.

European journal of neurology - 1 Apr 2021

Frasquet Marina, Rojas-García Ricard, Argente-Escrig Herminia, Vázquez-Costa Juan Francisco, Muelas Nuria, Vílchez Juan Jesús, Sivera Rafael, Millet Elvira, Barreiro Marisa, Díaz-Manera Jordi, Turon-Sans Janina, Cortés-Vicente Elena, Querol Luis, Ramírez-Jiménez Laura, Martínez-Rubio Dolores, Sánchez-Monteagudo Ana, Espinós Carmen, Sevilla Teresa, Lupo Vincenzo

Abstract excerpt

BACKGROUND AND PURPOSE: Distal hereditary motor neuropathies (dHMNs) are a heterogeneous group of disorders characterized by degeneration of the motor component of peripheral nerves. Currently, only 15% to 32.5% of patients with dHMN are characterized genetically. Additionally, the prevalence of these genetic disorders is not well known. Recently, biallelic mutations in the sorbitol dehydrogenase gene (SORD) have...

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PMID: 33369814
DOI: 10.1111/ene.14700

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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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