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Article

[Analysis of PI4KA gene variants in a patient with Hereditary spastic paraplegia type 84].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2026

Zhang Kang, Nan Jing, Tian Sheng, Sun Huan, Zhang Zi, Tang Min, Qun Sen, Ge Wei

Abstract excerpt

OBJECTIVE: To investigate the clinical and genetic characteristics of a patient with hereditary Spastic paraplegia type 84 (SPG84) due to compound heterozygous variants of the PI4KA gene. METHODS: A patient diagnosed at the Affiliated Hospital of Xuzhou Medical University in 2021 was selected as study subject. Clinical and imaging data were retrospectively analyzed. Peripheral blood samples were collected from...

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Identifiers

PMID: 42091194
DOI: 10.3760/cma.j.cn511374-20250804-00475

Genes

PI4KA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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