Integrated Molecular and Clinical Profiling of Primary Mitochondrial Oxidative Phosphorylation Disorders in an Indian Cohort: Insights from Genetics, Neuroimaging, and Machine Learning

Abstract excerpt

Mitochondrial disorders are a diverse group of inherited diseases caused by defects in oxidative phosphorylation, the primary way cells produce energy. These disorders often affect multiple organ systems, particularly those with high energy demands, such as the brain, muscles, and heart. Although increasingly recognized worldwide, mitochondrial diseases are still underdiagnosed in resource-limited areas. This pros...

Topics

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• Brain
• China
• Cross-Sectional Studies
• DNA, Mitochondrial
• Leigh Disease
• MELAS Syndrome
• Mitochondrial Diseases
• Mutation

Identifiers and source

Literature Corpus work

9a346f19-80dc-599c-913e-2d8deb8bf235

DOI

10.20944/preprints202507.2630.v1