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Article

Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.

Human genetics - 1 Jan 2005

Kijima Kazuki, Numakura Chikahiko, Izumino Hiroko, Umetsu Kazuo, Nezu Atsuo, Shiiki Toshihide, Ogawa Masafumi, Ishizaki Yoshito, Kitamura Takeshi, Shozawa Yasunobu, Hayasaka Kiyoshi

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) has been classified into two types, CMT1 and CMT2, demyelinating and axonal forms, respectively. CMT2 has been further subdivided into eight groups by linkage studies. CMT2A is linked to chromosome 1p35-p36 and mutation in the kinesin family member 1B-beta (KIF1B) gene had been reported in one pedigree. However, no mutation in KIF1B was detected in other pedigrees with CMT2A and...

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Identifiers

PMID: 15549395
DOI: 10.1007/s00439-004-1199-2

Genes

MFN2

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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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Mitochondrial GTPase mitofusin 2 mutation in Charcot-Marie-Tooth neuropathy type 2A.PMID 15549395Read ↗

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