Sensory neuronopathy in patients harbouring recessive polymerase γ mutations

Defects in the mitochondrial DNA replication enzyme, polymerase γ, are an important cause of mitochondrial disease with ∼25% of all adult diagnoses attributed to mutations in the POLG gene. Peripheral neuronopathy is often part of the clinical syndrome and can represent the most disabling feature. I...

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Autori principali: Lax, Nichola Z., Whittaker, Roger G., Hepplewhite, Philippa D., Reeve, Amy K., Blakely, Emma L., Jaros, Evelyn, Ince, Paul G., Taylor, Robert W., Fawcett, Peter R. W., Turnbull, Doug M.
Natura: Artigo
Lingua:Inglês
Pubblicazione: Oxford University Press 2012
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Original Articles
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3267986/
https://ncbi.nlm.nih.gov/pubmed/22189570
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awr326
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