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Prevalence of clinical parameters (%)
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List of symptoms
List of references:
Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
Petri Luoma, Atle Melberg, Juha O Rinne, Jyrki A Kaukonen, Nina N Nupponen, Richard M Chalmers, Anders Oldfors, Ilkka Rautakorpi, Leena Peltonen, Kari Majamaa, Hannu Somer, Anu Suomalainen,
Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ophthalmoplegia-and multiple deletions of mtDNA. Mitochondrial dysfunction is also suspected to participate in the pathogenesis of Parkinson's disease. However, no primary gene defects affecting mitochondrial proteins causing mendelian transmission of parkinsonism have been characterised. We aimed to analyse the gene sequence of POLG in patients with progressive external ophthalmoplegia and their healthy relatives.
Lancet (London, England) -
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