A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

Mutations in the nuclear gene POLG (encoding the catalytic subunit of DNA polymerase gamma) are an important cause of mitochondrial disease. The most common POLG mutation, A467T, appears to exhibit considerable phenotypic heterogeneity. The mechanism by which this single genetic defect results in su...

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Detalles Bibliográficos
Autores principales: Rajakulendran, Sanjeev, Pitceathly, Robert D. S., Taanman, Jan-Willem, Costello, Harry, Sweeney, Mary G., Woodward, Cathy E., Jaunmuktane, Zane, Holton, Janice L., Jacques, Thomas S., Harding, Brian N., Fratter, Carl, Hanna, Michael G., Rahman, Shamima
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703200/
https://www.ncbi.nlm.nih.gov/pubmed/26735972
http://dx.doi.org/10.1371/journal.pone.0145500

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4703200/
https://www.ncbi.nlm.nih.gov/pubmed/26735972
http://dx.doi.org/10.1371/journal.pone.0145500

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