Severe neurological presentation in siblings with COQ5-related primary Coenzyme Q10 deficiency: Expanding clinical and molecular spectrum

Authors

• Parith Wongkittichote, Washington University School of Medicine in St. Louis
• Rachel M Guerra, Washington University School of Medicine in St. Louis
• Daniel J Wegner, Washington University School of Medicine in St. Louis
• Samantha Toy, Washington University School of Medicine in St. Louis
• Jacqueline A Hauer, Mercy Children's Hospital
• David J Pagliarini, Washington University School of Medicine in St. Louis
• Jorge L Granadillo, Washington University School of Medicine in St. Louis

Journal

JIMD Reports

Publication Date

11-1-2025

Volume

66

Issue

6

First Page

e70038

Document Type

Open Access Publication

DOI

10.1002/jmd2.70038

Rights and Permissions

P. Wongkittichote, R. M. Guerra, D. J. Wegner, et al., “Severe Neurological Presentation in Siblings With COQ5-Related Primary Coenzyme Q10 Deficiency: Expanding Clinical and Molecular Spectrum,” JIMD Reports66, no. 6 (2025): e70038, https://doi.org/10.1002/jmd2.70038. © 2025 The Author(s). JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

Recommended Citation

Wongkittichote, Parith; Guerra, Rachel M; Wegner, Daniel J; Toy, Samantha; Hauer, Jacqueline A; Pagliarini, David J; and Granadillo, Jorge L, "Severe neurological presentation in siblings with COQ5-related primary Coenzyme Q10 deficiency: Expanding clinical and molecular spectrum." JIMD Reports. 66, 6. e70038 (2025).
https://digitalcommons.wustl.edu/oa_4/7055

Department

ICTS (Institute of Clinical and Translational Sciences)