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 (...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:Hum Mol Genet
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: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886115/
https://ncbi.nlm.nih.gov/pubmed/28430993
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx146
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares