Congenital hypermetabolism and uncoupled oxidative phosphorylation

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, wh...

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Detalles Bibliográficos
Autores principales: Ganetzky, Rebecca D., Markhard, Andrew L., Yee, Irene, Clever, Sheila, Cahill, Alan, Shah, Hardik, Grabarek, Zenon, To, Tsz-Leung, Mootha, Vamsi K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754853/
https://www.ncbi.nlm.nih.gov/pubmed/36239646
http://dx.doi.org/10.1056/NEJMoa2202949

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9754853/
https://www.ncbi.nlm.nih.gov/pubmed/36239646
http://dx.doi.org/10.1056/NEJMoa2202949

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