Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children

Background: The POLG1 gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA replication and repair. Mutations in POLG1 have been linked to a spectrum of clinical phenotypes, and may account for up to 25% of all adult presentations of mitochondrial disease. Metho...

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Main Authors: Stewart, J. D. (Author), Tennant, S. (Author), Powell, H. (Author), Pyle, A. (Author), Blakely, E. L. (Author), He, L. (Author), Hudson, G. (Author), Roberts, M. (Author), du Plessis, D. (Author), Gow, D. (Author), Mewasingh, L .D (Author), Hanna, M. G. (Author), Omer, S. (Author), Morris, A. A. (Author), Roxburgh, R. (Author), Livingston, J. H. (Author), McFarland, R. (Author), Turnbull, D. M. (Author), Chinnery, P .F (Author), Taylor, R .W (Author)
Format: Article
Language:English
Published: 2009.
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