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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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
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Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5846390/
https://ncbi.nlm.nih.gov/pubmed/29560378
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.532
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