title: Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
authors.affiliation: Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.
authors.forename: Stephan
authors.initials: S
authors.lastname: Züchner
authors.forename: Irina V
authors.initials: IV
authors.lastname: Mersiyanova
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Nisrine
authors.initials: N
authors.lastname: Bissar-Tadmouri
authors.forename: Julie
authors.initials: J
authors.lastname: Rochelle
authors.forename: Elena L
authors.initials: EL
authors.lastname: Dadali
authors.forename: Mario
authors.initials: M
authors.lastname: Zappia
authors.forename: Eva
authors.initials: E
authors.lastname: Nelis
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Jan
authors.initials: J
authors.lastname: Senderek
authors.forename: Yesim
authors.initials: Y
authors.lastname: Parman
authors.forename: Oleg
authors.initials: O
authors.lastname: Evgrafov
authors.forename: Peter De
authors.initials: PD
authors.lastname: Jonghe
authors.forename: Yuji
authors.initials: Y
authors.lastname: Takahashi
authors.forename: Shoij
authors.initials: S
authors.lastname: Tsuji
authors.forename: Margaret A
authors.initials: MA
authors.lastname: Pericak-Vance
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Esra
authors.initials: E
authors.lastname: Battaloglu
authors.forename: Alexander V
authors.initials: AV
authors.lastname: Polyakov
authors.forename: Vincent
authors.initials: V
authors.lastname: Timmerman
authors.forename: J Michael
authors.initials: JM
authors.lastname: Schröder
authors.forename: Jeffery M
authors.initials: JM
authors.lastname: Vance
authors.forename: Esra
authors.initials: E
authors.lastname: Battologlu
mesh_terms: D000293:Adolescent; D000328:Adult; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics; D005091:Exons; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D007438:Introns; D016547:Kinesins / Q000235:genetics*; D008126:Lod Score; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D008928:Mitochondria / Q000201:enzymology* / Q000235:genetics; D024101:Mitochondrial Proteins / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics*; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: C091053:KIF1B protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009419:Nerve Tissue Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human; D016547:Kinesins