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Article

Homozygous variant in COQ7 causes autosomal recessive hereditary spastic paraplegia.

Annals of clinical and translational neurology - 1 Apr 2024

Qiu Yusen, Xiong Ying, Wang Lulu, Zhu Min, Tan Dandan, Hong Daojun

Abstract excerpt

Biallelic mutations in the coenzyme Q7 (COQ7) encoding gene were recently identified as a genetic cause of distal hereditary motor neuropathy. Here, we explored the clinical, electrophysiological, pathological, and genetic characteristics of a Chinese patient with spastic paraplegia associated with recessive variants in COQ7. This patient carried a novel c.322C>A (p.Pro108Thr) homozygous variant. Sural biopsy...

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Source

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Identifiers

PMID: 38439593
DOI: 10.1002/acn3.52037
PMCID: PMC11021622

Genes

COQ7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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