A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Mutations in the mitochondrial DNA polymerase, POLG, are associated with a variety of clinical presentations, ranging from early onset fatal brain disease in Alpers syndrome to chronic progressive external ophthalmoplegia. The majority of mutations are linked with disturbances of mitochondrial DNA (...

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Detalles Bibliográficos
Autores principales: Siibak, Triinu, Clemente, Paula, Bratic, Ana, Bruhn, Helene, Kauppila, Timo E.S., Macao, Bertil, Rosenberger, Florian A., Lesko, Nicole, Wibom, Rolf, Naess, Karin, Nennesmo, Inger, Wedell, Anna, Peter, Bradley, Freyer, Christoph, Falkenberg, Maria, Wredenberg, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115/
https://www.ncbi.nlm.nih.gov/pubmed/28430993
http://dx.doi.org/10.1093/hmg/ddx146

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886115/
https://www.ncbi.nlm.nih.gov/pubmed/28430993
http://dx.doi.org/10.1093/hmg/ddx146

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