Clinicopathologic features of two unrelated autopsied patients with Charcot-Marie-Tooth disease carrying MFN2 gene mutation

Genetic analysis revealed a heterozygous missense mutation, p.Arg364Trp (c.1090 C > T), in MFN2 in both patients (Fig. 1f). In the peripheral nerves, atrophy of the anterior and posterior roots was evident, histopathologically showing severe loss of thick and thin myelinated axons and thinning of the remaining myelin sheaths (Fig. 2k–m). By contrast, a study of Drosophila disease models reported that mitochondria with MFN2 mutation showed various morphological changes such as hyperfusion and non-fusion, depending on the location of the mutation, and R364W-like mutation was associated with hyperfusion, with large and round mitochondria [5]. Availability of data and materials The datasets used and analysed during the current study available from the corresponding author on reasonable request.