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Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset

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...

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Detalles Bibliográficos
Autores principales:	Capiau, Sara, Smet, Joél, De Paepe, Boel, Yildiz, Yilmaz, Arslan, Mutluay, Stevens, Olivier, Verschoore, Maxime, Stepman, Hedwig, Seneca, Sara, Vanlander, Arnaud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8834419/ https://www.ncbi.nlm.nih.gov/pubmed/35159298 http://dx.doi.org/10.3390/cells11030489

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