A novel founder mutation in the MFN2 gene associated with variable Charcot-Marie-Tooth type 2 phenotype in two families from Southern Italy

Maria Muglia, Giovanni Vazza, Alessandra Patitucci, Micaela Milani, Davide Pareyson, Franco Taroni, Aldo Quattrone, Maria Luisa Mostacciuolo

Research output: Contribution to journalArticlepeer-review

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 dif f erent MFN2 mutations described thus far.2-4 In the current study, we report a novel MFN2 mutation shared by two apparently unrelated CMT2 families originating from the same area in Southern Italy.

Original languageEnglish
JournalBMJ Case Reports
DOIs
Publication statusPublished - Jan 23 2009

ASJC Scopus subject areas

  • Medicine(all)

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