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Genotype and phenotype spectrum of Charcot-Marie-Tooth disease due to mutations in SORD

27 Jan 2025

Abstract excerpt

Biallelic loss-of-function mutations in the sorbitol dehydrogenase (SORD) gene cause the most common recessive type of Charcot-Marie-Tooth disease (CMT), CMT-SORD. However, the full genotype-phenotype spectrum and progression of the disease remain to be defined. Notably, a multicentre phase 2/3 study to test the efficacy of govorestat (NCT05397665), a new aldose reductase inhibitor, is currently ongoing....

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PMID: 39938083
DOI: 10.1093/brain/awaf021

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