Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Stephan Züchner, Irina V. Mersiyanova, Maria Muglia, Nisrine Bissar-Tadmouri, Julie Rochelle, Elena L. Dadali, Mario Zappia, Eva Nelis, Alessandra Patitucci, Jan Senderek, Yesim Parman, Oleg Evgrafov, Peter De Jonghe, Yuji Takahashi, Shoij Tsuji, Margaret A. Pericak-Vance, Aldo Quattrone, Esra Battologlu, Alexander V. Polyakov, Vincent TimmermanJ. Michael Schröder, Jeffery M. Vance

Research output: Contribution to journalArticlepeer-review

1086 Scopus citations

Abstract

We report missense mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) in seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A (CMT2A). Although a mutation in kinesin family member 1B-β (KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIFIB in these seven families. Because these families include all published pedigrees with CMT2A and are ethnically diverse, we conclude that the primary gene mutated in CMT2A is MFN2.

Original languageEnglish (US)
Pages (from-to)449-451
Number of pages3
JournalNature genetics
Volume36
Issue number5
DOIs
StatePublished - May 2004
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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