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Article

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: Clinical and Molecular Characterization.

Movement disorders : official journal of the Movement Disorder Society - 1 Jan 2024

Lin Xiang, Jiang Jun-Yi, Hong Dao-Jun, Lin Kai-Jun, Li Jin-Jing, Chen Yi-Jun, Qiu Yu-Sen, Wang Zishuai, Liao Yi-Chu, Yang Kang, Shi Yan, Wang Meng-Wen, Hsu Shao-Lun, Hong Shunyan, Zeng Yi-Heng, Chen Xiao-Chun, Wang Ning, Lee Yi-Chung, Chen Wan-Jin

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegias (HSP) are neurologic disorders characterized by progressive lower-extremity spasticity. Despite the identification of several HSP-related genes, many patients lack a genetic diagnosis. OBJECTIVES: The aims were to confirm the pathogenic role of biallelic COQ4 mutations in HSP and elucidate the clinical, genetic, and functional molecular features of COQ4-associated HSP....

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PMID: 38014483
DOI: 10.1002/mds.29664

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