Japanese case of Charcot–Marie–Tooth disease type 2Z with severe retinitis pigmentosa. Issue 5 (22nd August 2022)

• Record Type: Journal Article
• Authors: Nomura, Emi; Tadokoro, Koh; Sasaki, Ryo; Nakata, Yumi; Nakano, Yumiko; Yunoki, Taijun; Takemoto, Mami; Morihara, Ryuta; Ando, Masahiro; Takashima, Hiroshi; Yamashita, Toru
• Is Part Of: Neurology and clinical neuroscience. Volume 10:Issue 5(2022)
• Page Start: 266
• Page End: 268
• Publication Date: 2022-08-22
• Subjects: Charcot‐Marie‐Tooth disease type 2Z -- MORC2 -- retinitis pigmentosa; Neurology -- Periodicals; Neurosciences -- Periodicals; 616.8
• DOI: 10.1111/ncn3.12660
• Languages: English
• ISSNs: 2049-4173

Abstract

Abstract: 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.