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Article

Mitochondrial Complex I Deficiency: Unraveling the Relevance of NDUFAF1 in Pediatric Hypertrophic Cardiomyopathy.

American journal of medical genetics. Part A - 1 May 2025

Kalantari Silvia, Veraldi Daniele, Politano Davide, Apicella Antonia, Castagnoli Riccardo, Foiadelli Thomas, D'Abrusco Fulvio, Giorgio Elisa, Berardinelli Angela, Codazzi Alessia Claudia, Marseglia Gianluigi, Valente Enza Maria, Sirchia Fabio

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is rare in childhood, but it is associated with significant morbidity and mortality. Genetic causes of HCM are mostly related to sarcomeric genes abnormalities; however, syndromic, metabolic, and mitochondrial disorders play an important role in its etiopathogenesis in pediatric patients. We here describe a new case of apparently isolated HCM due to mitochondrial assembly factor...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Electron Transport Complex I

Share to Genetic Predisposition to Disease

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Source

Identifiers

PMID: 39821332
DOI: 10.1002/ajmg.a.63994

Genes

NDUFAF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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