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Article
The presence of anaemia negatively influences survival in patients with POLG disease
Mitochondria play an important role in iron metabolism and haematopoietic cell homeostasis. Recent studies in mice showed that a mutation in the catalytic subunit of polymerase gamma (POLG) was associated with ha...
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Article
Erratum to: The presence of anaemia negatively influences survival in patients with POLG disease
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Chapter
Diseases of DNA Polymerase Gamma
Polymerase gamma (Polγ) is the DNA-dependent DNA polymerase responsible for replicating mitochondrial DNA. The enzyme is a trimer and comprises one catalytic subunit (POLG), which contains the polymerase activ...
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Article
Open AccessStatus epilepticus in POLG disease: a large multinational study
We aimed to provide a detailed phenotypic description of status epilepticus (SE) in a large cohort of patients with POLG disease and identify prognostic biomarkers to improve the management of this life-threat...