Severe CMT type 2 with fatal encephalopathy associated with a novel MFN2 splicing mutation.
Boaretto
F
F
Department of Biology, University of Padova, Italy.
Vettori
A
A
Casarin
A
A
Vazza
G
G
Muglia
M
M
Rossetto
M G
MG
Cavallaro
T
T
Rizzuto
N
N
Carelli
V
V
Salviati
L
L
Mostacciuolo
M L
ML
Martinuzzi
A
A
D001927:Brain Diseases / Q000150:complications / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000150:complications / Q000235:genetics*; D005192:Family Health; D005260:Female; D020558:GTP Phosphohydrolases; D006801:Humans; D007438:Introns / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D012326:RNA Splicing / Q000235:genetics*
D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human