From genotype to outcome: Zygosity-specific insights in 63 cases of CLPB-related mitochondrial disease
This is the largest cohort study to date comparing biallelic and monoallelic CLPB deficiency. Structural variant impact-particularly ankyrin domain disruption-emerged as a key prognostic factor.
Authors
- Sergio Guerrero‐Castillo (ORCID: https://orcid.org/0000-0002-6630-0562)
- Kajus Merkevičius (ORCID: https://orcid.org/0000-0002-0480-3922)
- Andrea Finocchi (ORCID: https://orcid.org/0000-0003-0958-8536)
- Oliver Heath (ORCID: https://orcid.org/0000-0003-4191-3319)
- Bianca Panis (ORCID: https://orcid.org/0000-0001-5953-139X)
- Szymon Ziętkiewicz (ORCID: https://orcid.org/0000-0002-3435-4603)
- Katarzyna Iwanicka‐Pronicka (ORCID: https://orcid.org/0000-0003-2164-6663)
- David Coman (ORCID: https://orcid.org/0000-0001-6303-6471)
- Amy Kritzer (ORCID: https://orcid.org/0000-0002-0385-2474)
- Rebecca Halligan (ORCID: https://orcid.org/0000-0002-0352-9482)
- René G. Feichtinger (ORCID: https://orcid.org/0000-0002-4215-8258)
- Meinolf Siepermann
- Uta Lichter‐Konecki
- Laurie E. Seltzer
- DS Robert Pitceathly
- Rosalba Carrozzo
- Galit Tal
- Santiago Ramon-Maiques
- Ron A. Wevers
- Carolyn Ellaway
- Felix Distelmaier
- Shamima Rahman
- Iris Hannibal
- Saskia B. Wortmann
- Safa Baris
- Johannes A. Mayr
Institutions
- Boston Children's Hospital (US)
- Radboud University Nijmegen (NL)
- Universität Hamburg (DE)
- Vilnius University (LT)
- Paracelsus Medical University (AT)
- Maastricht University Medical Centre (NL)
- Great Ormond Street Hospital for Children NHS Foundation Trust (GB)
- Rambam Health Care Campus (IL)
- Radboud University Medical Center (NL)
- University of Rochester Medical Center (US)
- University of Gdańsk (PL)
- Düsseldorf University Hospital (DE)
- University Medical Center Hamburg-Eppendorf (DE)
- Children's Memorial Health Institute (PL)
- Bambino Gesù Children's Hospital (IT)
- Sydney Children's Hospital (AU)
- Children's Hospital of Pittsburgh (US)
- Evelina London Children's Healthcare (GB)
- Instituto de Biomedicina de Valencia (ES)
- National Hospital for Neurology and Neurosurgery (GB)
- University Hospital Cologne (DE)
- Children's Health Queensland Hospital and Health Service (AU)
- Heinrich Heine University Düsseldorf (DE)
- University College London (GB)
- Marmara University (TR)
- Ludwig-Maximilians-Universität München (DE)
Publication Details
- Journal
- Molecular Genetics and Metabolism
- Published
- 2026-02-13
- DOI
- https://doi.org/10.1016/j.ymgme.2026.109752
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00