A novel de novo MFN2 mutation causing CMT2A with upper motor neuron signs.
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
S
S
Ajroud-Driss
F
F
Fecto
K
K
Ajroud
Y
Y
Yang
S
S
Donkervoort
N
N
Siddique
T
T
Siddique
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