Examines clinical diversity and identifies biomarkers in POLG-related mitochondrial disease, suggesting improved diagnostic potential.
POLG-related disorders exhibit marked phenotypic heterogeneity and frequent clinical overlap, often leading to delayed diagnosis. A precise delineation of their clinical spectrum, natural history, and the identification of reliable biomarkers is essential to improve diagnostic accuracy and guide therapeutic development.
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Bermejo-Guerrero et al. (2026) studied this question.
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