Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features. Generally patients with an early onset CMT2A disclose a severe phenotype while the cases with a late onset present a more benign clinical course. We describe clinical, electrophysiological and pathological findings of a patient with a mild CMT2A due to the c.2213C>T, p.Ala738Val MFN2 mutation. This mutation has been already described to be only associated with an early onset and moderately severe CMT2A phenotype.
Luigetti, M., Fabrizi, G. M., Taioli, F., Conte, A., Del Grande, A., Sabatelli, M., Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation., <<JOURNAL OF THE NEUROLOGICAL SCIENCES>>, 2011; 2011 (Agosto): 168-170. [doi:10.1016/j.jns.2011.04.025] [http://hdl.handle.net/10807/3566]
Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
Luigetti, Marco;Conte, Amelia;Del Grande, Alessandra;Sabatelli, Mario
2011
Abstract
Mutations in the gene encoding mitofusin 2 (MFN2) are responsible of about 20% of Charcot-Marie-Tooth disease type 2 (CMT2) case. A great variability exists among CMT2A concerning severity and associated clinical features. Generally patients with an early onset CMT2A disclose a severe phenotype while the cases with a late onset present a more benign clinical course. We describe clinical, electrophysiological and pathological findings of a patient with a mild CMT2A due to the c.2213C>T, p.Ala738Val MFN2 mutation. This mutation has been already described to be only associated with an early onset and moderately severe CMT2A phenotype.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.