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Article

Coenzyme Q4 gene compound heterozygous mutations cause hereditary spastic paraplegias: a case report.

Journal of medical case reports - 11 Jun 2026

Rong YaLan, Ye LiZi, Liu Ci, Guo XiaoYan

Abstract excerpt

BACKGROUND: Complicated hereditary spastic paraplegias (complicated HSPs) are a subtype of hereditary spastic paraplegias (HSPs), which refer to a group of hereditary neurodegenerative diseases of the nervous system characterized by stiffness of the lower limbs and hyperreflexia, and are accompanied by other symptoms. HSPs exhibit high clinical and genetic heterogeneity, making diagnosis challenging, especially...

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Identifiers

PMID: 42277908
DOI: 10.1186/s13256-026-06212-7
PMCID: PMC13483637

Genes

COQ4

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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