Charcot-Marie-Tooth polyneuropathy type 2A related to a mitofusin 2 gene mutation presenting as severe early-onset axonal polyneuropathy

Introduction: CMT polyneuropathies are inherited slowly progressive disorders of the peripheral nerve with variable age at onset and variable severity. To date, in CMT2 (A-F) mutations in at least five different genes and three additional chromosomal loci have been identified. CMT2A was first shown to be related to mutations in the KIF1B gene. However, recent studies have identified mutations in the gene encoding MFN2, a mitochondrial GTPase protein, in several kindreds. Here, we report a 32-year old German woman with early-onset axonal CMT due to a, probably de novo, mutation in the MFN2 gene (HMSN IIA, CMT2A,…