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Article

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.

Journal of neurology - 1 Oct 2023

Wang Mengli, Yang Honglan, Lin Zhiqiang, Li Xiaobo, Liu Lei, Huang Shunxiang, Zhao Huadong, Zhu Xiying, Xiao Qiao, Duan Ranhui, Wang Junling, Zuchner Stephan, Tang Beisha, Zhang Ruxu

Abstract excerpt

With complicated conditions and a large number of potentially causative genes, the diagnosis of a patient with complex inherited peripheral neuropathies (IPNs) is challenging. To provide an overview of the genetic and clinical features of 39 families with complex IPNs from central south China and to optimize the molecular diagnosis approach to this group of heterogeneous diseases, a total of 39 index patients...

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Source

Identifiers

PMID: 37365282
DOI: 10.1007/s00415-023-11821-z

Genes

GNE
NOTCH2NLC
SACS
TTR
BSCL2
KIF5A

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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