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Article

[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova - 1 Jan 2012

Sharkova I V, Milovidova T B, Dadali E L, Poliakov A V

Abstract excerpt

Data of own researches and the review of the literary data for studying pathogenesis and features of HMSN, type 1 Х caused by mutations in gene GJB1 are presented in this paper. X-linked HMSN is the genetic variant second for frequency in Russian, it constitute 22% from total of patients of this group. Features of this genetic variant are considerable distinction in weight clinical displays at patients man's and...

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Source

Identifiers

PMID: 23011429

Genes

GJB1

Provenance

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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[Clinical-genetic characteristics of hereditary motor-sensory neuropathy type 1 X].PMID 23011429Read ↗

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[Clinical, pathologic and molecular genetic studies of patients with hereditary motor and sensory neuropathy (HMSN)].Semantic proximity Read ↗

[Spectrum and frequency of mutations in the connexin 32 gene (GJB1) in hereditary and sensory neuropathy type 1X patients from Bashkortostan].Semantic proximity Read ↗

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