Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Züchner
Stephan
S
Department of Neuropathology, University Hospital, RWTH Aachen, Pauwelsstrasse 30, 52074 Aachen, Germany.
Mersiyanova
Irina V
IV
Muglia
Maria
M
Bissar-Tadmouri
Nisrine
N
Rochelle
Julie
J
Dadali
Elena L
EL
Zappia
Mario
M
Nelis
Eva
E
Patitucci
Alessandra
A
Senderek
Jan
J
Parman
Yesim
Y
Evgrafov
Oleg
O
Jonghe
Peter De
PD
Takahashi
Yuji
Y
Tsuji
Shoij
S
Pericak-Vance
Margaret A
MA
Quattrone
Aldo
A
Battaloglu
Esra
E
Polyakov
Alexander V
AV
Timmerman
Vincent
V
Schröder
J Michael
JM
Vance
Jeffery M
JM
Battologlu
Esra
E
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
C091053:KIF1B protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009419:Nerve Tissue Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human; D016547:Kinesins