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Article

Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2026

Ratnaike Thiloka, Ramanan Siddharth, Elkhateeb Nour, Narayanan Ramya, Yang Jenny, Arany Eszter Sara, Mirchandani Manya, Piper Rachael, Schon Katherine, Kule M Eren, Gilmartin Christopher, Lochmüller Angela, Shaw Emogene, Horváth Rita, Chinnery Patrick F

Abstract excerpt

PURPOSE: Primary mitochondrial diseases (PMD) arise from variants in the mitochondrial or nuclear genomes. Phenotype-based recognition of specific PMD genotypes remains difficult, prolonging the diagnostic odyssey. We expanded the MitoPhen database to characterize phenotypic variation across PMD more systematically. METHODS: Individual-level data on mitochondrial DNA disorders, nuclear-encoded mitochondrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 41765864
DOI: 10.1016/j.gim.2025.101620

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POLG

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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