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Article

Microdeletion in distal PLP1 enhancers causes hereditary spastic paraplegia 2.

Annals of clinical and translational neurology - 1 Sept 2023

Zhou Xun, Wang Yige, He Runcheng, Liu Zhenhua, Xu Qian, Guo Jifeng, Yan Xinxiang, Li Jinchen, Tang Beisha, Zeng Sheng, Sun Qiying

Abstract excerpt

OBJECTIVES: Hereditary spastic paraplegia (HSP) is a genetically heterogeneous disease caused by over 70 genes, with a significant number of patients still genetically unsolved. In this study, we recruited a suspected HSP family characterized by spasticity, developmental delay, ataxia and hypomyelination, and intended to reveal its molecular etiology by whole exome sequencing (WES) and long-read sequencing (LRS)...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37475517
DOI: 10.1002/acn3.51848
PMCID: PMC10502680

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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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