P041: A personalized medicine paradigm using clinical, biochemical, multiomics and cell based functional assays for delineating undiagnosed primary mitochondrial diseases

Genetics in Medicine Open 2026 Open access

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Authors: Madelyn Klemmensen, Caitlin Ondrashek, Moon Ley Tung, Amy R. U. L. Calhoun, Bharatendu Chandra
DOI: 10.1016/j.gimo.2026.103532
Cited by: 0

Abstract

Primary mitochondrial disorders (PMD) are genetic metabolic disorders that directly impair mitochondrial structure or function, including electron-transport chain activity. PMDs are due to variants in either maternally inherited mitochondrial DNA (mtDNA) or nuclear DNA.

Fields of Study & Subjects

Mitochondrial Function and Pathology Metabolism and Genetic Disorders Genomics and Rare Diseases

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103532–103532
Publication date
1 January 2026
Language
EN