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Severe congenital lactic acidosis and hypertrophic cardiomyopathy caused by an intronic variant in NDUFB7.

Human mutation - 1 Apr 2021

Correia Sandrina P, Moedas Marco F, Naess Karin, Bruhn Helene, Maffezzini Camilla, Calvo-Garrido Javier, Lesko Nicole, Wibom Rolf, Schober Florian A, Jemt Anders, Stranneheim Henrik, Freyer Christoph, Wedell Anna, Wredenberg Anna

Abstract excerpt

Mutations in structural subunits and assembly factors of complex I of the oxidative phosphorylation system constitute the most common cause of mitochondrial respiratory chain defects. Such mutations can present a wide range of clinical manifestations, varying from mild deficiencies to severe, lethal disorders. We describe a patient presenting intrauterine growth restriction and anemia, which displayed postpartum...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to NADH, NADPH Oxidoreductases

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PMID: 33502047
DOI: 10.1002/humu.24173

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