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Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors

OBJECTIVE: The pathogenic mitochondrial DNA m.3243A>G mutation is associated with a wide range of clinical features, making disease prognosis extremely difficult to predict. We aimed to understand the cause of this heterogeneity. METHODS: We examined the phenotypic profile of 238 adult m.3243A>...

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Detalles Bibliográficos
Autores principales:	Pickett, Sarah J., Grady, John P., Ng, Yi Shiau, Gorman, Gráinne S., Schaefer, Andrew M., Wilson, Ian J., Cordell, Heather J., Turnbull, Doug M., Taylor, Robert W., McFarland, Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2018
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5846390/ https://www.ncbi.nlm.nih.gov/pubmed/29560378 http://dx.doi.org/10.1002/acn3.532

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