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Article

Congenital Hypermetabolism and Uncoupled Oxidative Phosphorylation.

The New England journal of medicine - 13 Oct 2022

Ganetzky Rebecca D, Markhard Andrew L, Yee Irene, Clever Sheila, Cahill Alan, Shah Hardik, Grabarek Zenon, To Tsz-Leung, Mootha Vamsi K

Abstract excerpt

We describe the case of identical twin boys who presented with low body weight despite excessive caloric intake. An evaluation of their fibroblasts showed elevated oxygen consumption and decreased mitochondrial membrane potential. Exome analysis revealed a de novo heterozygous variant in ATP5F1B, which encodes the β subunit of mitochondrial ATP synthase (also called complex V). In yeast, mutations affecting the...

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Identifiers

PMID: 36239646
DOI: 10.1056/NEJMoa2202949
PMCID: PMC9754853

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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