Novel mutation of the mitofusin 2 gene in a family with Charcot-Marie-Tooth disease type 2.
Department of Biology, University of Padova, Italy.
Giorgia
G
Bergamin
Chiara
C
Dalla Torre
Mario
M
Cacciavillani
Marta
M
Lucchetta
Francesca
F
Boaretto
Marta
M
Campagnolo
Maria Luisa
ML
Mostacciuolo
Chiara
C
Briani
D000328:Adult; D000368:Aged; D000595:Amino Acid Sequence; D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020558:GTP Phosphohydrolases / Q000032:analysis / Q000235:genetics*; D006801:Humans; D024101:Mitochondrial Proteins / Q000032:analysis / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree
D024101:Mitochondrial Proteins; D020558:GTP Phosphohydrolases; C470018:MFN2 protein, human