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The axonal type of Charcot-Marie-Tooth (CMT) disorders is genetically heterogeneous, therefore the causal mutation is unlikely to be observed, even in clinically well characterized patients. Mitofusin-2 (MFN2) gene mutations are the most frequent cause of axonal CMT disorders in a number of populations. There are two phenotypes; early onset, which is severe and late onset, which is a milder phenotype. A cohort of 139 unrelated Czech patients with axonal neuropathy was selected for sequencingdoi:10.3892/mmr.2013.1730 pmid:24126688 fatcat:qcdwbdlgpbftxa7giu6grnoqii