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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...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
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 |