A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.
Ajroud-Driss
S
S
Davee Department of Neurology and Clinical Neurosciences, Feinberg School of Medicine, Northwestern University, 710 N. Lake Shore Drive, 14th floor Abbott Hall #1426, Chicago, IL 60611, USA. s-ajroud@md.northwestern.edu
Fecto
F
F
Ajroud
K
K
Yang
Y
Y
Donkervoort
S
S
Siddique
N
N
Siddique
T
T
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D019943:Amino Acid Substitution; D000818:Animals; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics / Q000503:physiopathology; D020558:GTP Phosphohydrolases; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D024101:Mitochondrial Proteins / Q000235:genetics*; D008969:Molecular Sequence Data; D016472:Motor Neuron Disease / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D016415:Sequence Alignment
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human