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Clinical and pathological study of SORD-related distal motor neuropathy caused by novel compound heterozygous mutations in a Chinese patient.

Clinical neurology and neurosurgery - 1 Feb 2022

Chen Bin, Zhang Zaiqiang, Zhang Cuiping, Niu Songtao, Pan Hua, Dong Gehong, Wang Xingao

Abstract excerpt

Sorbitol dehydrogenase (SORD) has been identified as the causative gene of autosomal recessive distal hereditary motor neuropathies (dHMN). Here, we describe a 25-year-old woman who presented with progressive weakness of both lower limbs for the previous 10 years. Electrophysiological results suggested only a reduction in the compound muscle action potential (CMAP) amplitude of both the tibial and left deep...

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Identifiers

PMID: 34995833
DOI: 10.1016/j.clineuro.2021.107118

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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