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Article

A novel mutation in SORD gene associated with distal hereditary motor neuropathies.

BMC medical genomics - 24 Jun 2024

Yuan Xiaoqin, Zhang Shanshan, Shang Huifang, Tang Yufeng

Abstract excerpt

BACKGROUND: Distal hereditary motor neuropathy (dHMN) is a heterogeneous group of hereditary diseases caused by the gradual degeneration of the lower motor neuron. More than 30 genes associated with dHMN have been reported, while 70-80% of those with the condition are still unable to receive a genetic diagnosis. METHODS: A 26-year-old man experiencing gradual weakness in his lower limbs was referred to our...

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Identifiers

PMID: 38915017
DOI: 10.1186/s12920-024-01940-5
PMCID: PMC11194961

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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