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Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction

Crossref DOI link: https://doi.org/10.1038/s10038-025-01356-8

Published Online: 2025-07-22

Published Print: 2025-10

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Nakamura, Kohta

Kishita, Yoshihito

Imai-Okazaki, Atsuko

Omata, Taku

Nodera, Maki

Yatsuka, Yukiko https://orcid.org/0000-0003-3137-6919
Sugiura, Ayumu

Matsumoto, Naoyuki

Prokisch, Holger https://orcid.org/0000-0003-2379-6286
Matsumoto, Hiroshi

Ohtake, Akira https://orcid.org/0000-0003-1147-3113
Murayama, Kei https://orcid.org/0000-0002-3923-8636
Okazaki, Yasushi https://orcid.org/0000-0003-3241-5502
Funding

Funding for this research was provided by:

MEXT | Japan Society for the Promotion of Science (JP23K07488, JP22K15950, JP23H00424)
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Text and Data Mining valid from 2025-07-22

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Article History

Received: 27 December 2024

Revised: 19 May 2025

Accepted: 9 June 2025

First Online: 22 July 2025

Competing interests

: The authors declare no competing interests.

: The study was approved by the regional Ethics Committees of Juntendo University, Saitama Medical University, Chiba Children’s Hospital, and Kindai University. Written informed consent was obtained from the parents. All methods were performed by relevant guidelines and regulations.

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