Hypertrophic cardiomyopathy as a novel phenotypic feature of <i>NSUN3</i> -related mitochondrial disease: a case report with review of the literature
To our knowledge, this is the first reported case of <i>NSUN3</i>-related mitochondrial disease with HCM. An increasing number of reported cases will likely contribute to a more comprehensive understanding of the clinical phenotype and genotype-phenotype correlations.
Authors
- Serap Ketenci İşlek
- Göknur Haliloğlu (ORCID: https://orcid.org/0000-0003-1813-275X)
- Kısmet Çıkı (ORCID: https://orcid.org/0000-0002-6800-8848)
- Ayşe Şenol Ersak (ORCID: https://orcid.org/0000-0003-2037-7932)
- Ali Dursun
- Ebru Aypar
- Pelin Ozlem Simsek Kiper
- Yılmaz Yıldız
- Ayşen Koçyiğit
- Tuğçe Çağıran
Institutions
- Hacettepe University (TR)
Publication Details
- Journal
- Journal of Pediatric Endocrinology and Metabolism
- Published
- 2026-02-23
- DOI
- https://doi.org/10.1515/jpem-2025-0578
- Primary Topic
- Mitochondrial Function and Pathology
- Type
- article
- Field-Weighted Citation Impact
- 0.00