Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

Mutations in the nuclear-encoded mitochondrial maintenance gene RRM2B are an important cause of familial mitochondrial disease in both adults and children and represent the third most common cause of multiple mitochondrial DNA deletions in adults, following POLG [polymerase (DNA directed), gamma] an...

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Detalles Bibliográficos
Autores principales: Pitceathly, Robert D. S., Smith, Conrad, Fratter, Carl, Alston, Charlotte L., He, Langping, Craig, Kate, Blakely, Emma L., Evans, Julie C., Taylor, John, Shabbir, Zarfishan, Deschauer, Marcus, Pohl, Ute, Roberts, Mark E., Jackson, Matthew C., Halfpenny, Christopher A., Turnpenny, Peter D., Lunt, Peter W., Hanna, Michael G., Schaefer, Andrew M., McFarland, Robert, Horvath, Rita, Chinnery, Patrick F., Turnbull, Douglass M., Poulton, Joanna, Taylor, Robert W., Gorman, Gráinne S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2012
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501970/
https://www.ncbi.nlm.nih.gov/pubmed/23107649
http://dx.doi.org/10.1093/brain/aws231

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