Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa

Charcot-Marie-Tooth disease type 2Z (CMT2Z) shows highly variable clinical features. We report the first Japanese CMT2Z patient with a c.754C>T (p.R252W) substitution of the MORC2 gene, complicating severe retinitis pigmentosa. The MORC2 mutants were involved in a decrease in cell survival through induction of apoptosis. Thus, the MORC2 mutation might be involved in the degeneration of photoreceptors and the development of retinitis pigmentosa.

This is the peer reviewed version of the following article: [Nomura, E, Tadokoro, K, Sasaki, R, et al. Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa. Neurol Clin Neurosci. 2022; 10: 266-268. doi: 10.1111/ncn3.12660], which has been published in final form at [https://doi.org/10.1111/ncn3.12660]. This article may be used for non-commercial purposes in accordance with Wiley Terms and Conditions for Use of Self-Archived Versions. This article may not be enhanced, enriched or otherwise transformed into a derivative work, without express permission from Wiley or by statutory rights under applicable legislation. Copyright notices must not be removed, obscured or modified. The article must be linked to Wiley’s version of record on Wiley Online Library and any embedding, framing or otherwise making available the article or pages thereof by third parties from platforms, services and websites other than Wiley Online Library must be prohibited.