• Yasuyoshi Kimura, Akira Nishikawa, Akihiro Hashiguchi, Masaki Etoh, Akiko Yoshimura, Kanako Asai, Noriko Miyashita, Hiroshi Takashima, Hisae Sumi, and Takashi Naka.
• Department of Neurology, Higashiosaka City Medical Center, Japan.
• Intern. Med. 2022 Jun 1; 61 (11): 1743-1747.

AbstractCharcot-Marie-Tooth disease (CMT) is a common hereditary peripheral polyneuropathy encompassing distinct monogenetic disorders. Pathogenic mutations in mitofusin 2 (MFN2) are the most frequent cause of its axonal type, CMT type 2A, with diverse phenotypes. We herein report a Japanese patient with a novel heterozygous MFN2 pathogenic variant (c.740 G>C, p.R247P) and severe CMT phenotypes, including progressive muscle weakness, optic atrophy, urinary inconsistency, and restrictive pulmonary dysfunction with eventration of the diaphragm that developed over her 60-year disease course. Our case expands the clinico-genetic features of MFN2-related CMT and highlights the need to evaluate infrequent manifestations during long-term care of CMT patients.

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