Stephan Züchner1, 2, Irina V Mersiyanova3, Maria Muglia4, Nisrine Bissar-Tadmouri5, 6, Julie Rochelle2, Elena L Dadali3, Mario Zappia7, Eva Nelis8, Alessandra Patitucci4, Jan Senderek9, Yesim Parman10, Oleg Evgrafov3, Peter De Jonghe8, Yuji Takahashi11, Shoij Tsuji11, Margaret A Pericak-Vance2, Aldo Quattrone4, 7, Esra Battologlu5, Alexander V Polyakov3, Vincent Timmerman8, J Michael Schröder1, 12
& Jeffery M Vance2, 121
Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074
Aachen, Germany.
2
Center for Human Genetics, Duke University Medical Center, 595 LaSalle Street, Durham, North Carolina
27710, USA.
3
Research Centre for Medical Genetics, Moskvorechie 1, 115478
Moscow, Russia.
4
Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy.
5
Bogazici University, Department of Molecular Biology and Genetics, 34342 Bebek, Istanbul, Turkey.
6
Fatih University, Biology Department, 34500 Buyukcekmece, Istanbul, Turkey.
7
Institute of Neurology, University "Magna Graecia", Catanzaro, Italy.
8
Molecular Genetics Department, Flanders Interuniversity Institute for Biotechnology, University of Antwerp, Universiteitsplein 1, B-2610
Antwerpen, Belgium.
9
Institute of Human Genetics, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074
Aachen, Germany.
10
Istanbul University, Istanbul Medical School, Department of Neurology, 34342 Bebek, Istanbul, Turkey.
11
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-Ku, Tokyo
113-8655, Japan.
12
These authors contributed equally to this work.
Correspondence should be addressed to Jeffery M Vance jeff@chg.duhs.duke.edu
(KIF1B) was associated with CMT2A in a single Japanese family, we found no mutations in KIF1B 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.
