Article
Challenging mtDNA tRNA variant guidelines: Emphasizing single-cell analysis through four novel variants.
Mitochondrion - 1 Sept 2026
Prosper Chloé, Zereg Elamine, Chaussenot Annabelle, Bannwarth Sylvie, Lannes Béatrice, Streichenberger Nathalie, Kaphan Elsa, Nadaj-Pakleza Aleksandra, Villa Luisa, Sacconi Sabrina, Masingue Marion, Birgy Eléonore, Francou Bruno, Ait-El-Mkadem Saadi Samira, Fragaki Konstantina, Paquis-Flucklinger Véronique, Rouzier Cécile
Abstract excerpt
The broad clinical and genetic heterogeneity of mitochondrial diseases makes diagnosis challenging. Accurate characterization of novel variants is crucial to reduce diagnostic uncertainty, guide treatment, and enable reliable genetic counseling. In this study, we validated a single-cell NGS-based analysis approach by comparison with conventional PCR-RFLP and applied it to five mtDNA variants identified in...
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