title: Clinical, electrophysiological and pathological findings of a patient with CMT2 due to the p.Ala738Val mitofusin 2 mutation.
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.
authors: Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy. mluigetti@gmail.com
authors: M
authors: M
authors: Luigetti
authors: G M
authors: GM
authors: Fabrizi
authors: F
authors: F
authors: Taioli
authors: A
authors: A
authors: Conte
authors: A
authors: A
authors: Del Grande
authors: M
authors: M
authors: Sabatelli