Article
Expanding the Genetic and Phenotypic Spectrum of POLRMT-Related Mitochondrial Disease.
Clinical genetics - 1 Jan 2026
Fassad Mahmoud R, Valenzuela Sebastian, Oláhová Monika, Collier Jack J, Knowles Charlotte V Y, Mavraki Eleni, Elbracht Miriam, Güzel Nergis, Herberhold Thomas, Kurth Ingo, Maier Andrea, Mattern Larissa, Saunders Carol, McCullagh Helen, Õunap Katrin, Wortmann Saskia B, Reis Andre, Zhang Lei, Gustafsson Claes M, McFarland Robert, Taylor Robert W
Abstract excerpt
Mitochondrial diseases are a complex group of conditions exhibiting significant phenotypic and genetic heterogeneity. Genomic testing is increasingly used as the first step in the diagnostic pathway for mitochondrial diseases. We used next-generation sequencing followed by bioinformatic data analysis to identify potentially damaging variants in the POLRMT gene (NM_005035.4) in six new affected individuals....
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