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Article

[MFN2 gene analysis in patients with hereditary motor and sensory neuropathy from Bashkortostan Republic].

Genetika - 1 Jul 2013

Khidiyatova I M, Skachkova I A, Saifullina E V, Magzhanov R V, Schagina O A, Zinchenko R A, Petrin A N, Khusnutdinova E K

Abstract excerpt

Hereditary motor and sensory neuropathy (HMSN) type IIA is caused by mutations in the mitofusin type-2 (MFN2) gene and represents one of the most common axonal forms of HMSN. We determined the spectrum and frequency of MFN2 gene mutations in patients from the Bashkortostan Republic (BR). Four different mutations were revealed in 5 out of 170 unrelated patients, i.e., c.2113G>A (p.Val705Ile) (1.2% among all types...

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Identifiers

PMID: 24450158
DOI: 10.7868/s0016675813060040

Genes

MFN2
MSN

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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