Article
Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype-Different Onset.
Cells - 30 Jan 2022
Capiau Sara, Smet Joél, De Paepe Boel, Yildiz Yilmaz, Arslan Mutluay, Stevens Olivier, Verschoore Maxime, Stepman Hedwig, Seneca Sara, Vanlander Arnaud
Abstract excerpt
Human mitochondrial disease exhibits large variation of clinical phenotypes, even in patients with the same causative gene defect. We illustrate this heterogeneity by confronting clinical and biochemical data of two patients with the uncommon pathogenic homoplasmic NC_012920.1(MT-ATP6):m.9035T>C variant in MT-ATP6. Patient 1 presented as a toddler with severe motor and speech delay and spastic ataxia without...
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