Article

An updated inventory of genes essential for oxidative phosphorylation identifies a mitochondrial origin in familial Ménière’s disease

2025-01-29

Abstract excerpt

<h4>Summary</h4> Mitochondrial disorders (MDs) are among the most common inborn errors of metabolism and primarily arise from defects in oxidative phosphorylation (OXPHOS). Their complex mode of inheritance and diverse clinical presentations render the diagnosis of MDs challenging and, to date, most lack a cure. Here, we build on previous efforts to discover genes necessary for OXPHOS and report a highly compleme...

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Literature Corpus work: 2fa54e68-e612-504b-b66e-de2487b74ae6
DOI: 10.1101/2025.01.29.635272

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