title: A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy.
abstract: Charcot-Marie-Tooth (CMT) disease is the most common hereditary neuropathy. CMT falls into two main forms: the demyelinating CMT type 1 with decreased nerve conduction velocities and the axonal CMT type 2. CMT2 is further subtyped by linkage analysis into >10 loci, with eight genes identified.Recently, mutations in the mitochondrial fusion protein 2 (MFN2) gene were reported in families with CMT2A1 and additional mutations have been detected in other studies, bringing to 42 the total number of different MFN2 mutations described thus far.2(-)4In the current study, we report a novel MFN2 mutation shared by two apparently unrelated CMT2 families originating from the same area in Southern Italy.
authors.affiliation: National Research Council, Mangone, Cosenza, 87050, Italy.
authors.forename: Maria
authors.initials: M
authors.lastname: Muglia
authors.forename: Giovanni
authors.initials: G
authors.lastname: Vazza
authors.forename: Alessandra
authors.initials: A
authors.lastname: Patitucci
authors.forename: Micaela
authors.initials: M
authors.lastname: Milani
authors.forename: Davide
authors.initials: D
authors.lastname: Pareyson
authors.forename: Franco
authors.initials: F
authors.lastname: Taroni
authors.forename: Aldo
authors.initials: A
authors.lastname: Quattrone
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Mostacciuolo