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Author

A. Martínez-Hernández

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Review Open access Sep 2026

Mitochondrial Genomic Variation in Rare and Metabolic Diseases: From Heteroplasmy to Precision Medicine

Current evidence supports a well-established pathogenic role for specific mtDNA variants in primary mitochondrial disorders, whereas the contributions of common polymorphisms and haplogroups to complex metabolic disease remain largely associative and require further replication and functional validation.

Arijahir Alexis Mancio-Cárdenas, H. García-Ortiz, F. Barajas-Olmos et al. · 0 citations

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