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Article

Expanding the genetic and clinical spectrum of SORD-related peripheral neuropathy by reporting a novel variant c.210T>G and evidence of subclinical muscle involvement.

Journal of the peripheral nervous system : JPNS - 1 Dec 2023

Li Lu, Xie Yongzhi, Zeng Sen, Li Xiaobo, Lin Zhiqiang, Huang Shunxiang, Zhao Huadong, Cao Wanqian, Liu Lei, Liu Jun, Rong Pengfei, Zhang Ruxu

Abstract excerpt

BACKGROUND AND AIMS: Biallelic variants in the sorbitol dehydrogenase (SORD) gene have been identified as the genetic cause of autosomal recessive (AR) peripheral neuropathy (PN) manifesting as Charcot-Marie-Tooth disease type 2 (CMT2) or distal hereditary motor neuropathy (dHMN). We aim to observe the genetic and clinical spectrum of a cohort of patients with SORD-related PN (SORD-PN). METHODS: A total of 107...

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PMID: 37584201
DOI: 10.1111/jns.12591

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