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

27 Feb 2009

Abstract excerpt

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. METHODS AND RESULTS: We present 14 patients, with characteristic features of mitochondrial disease including progressive...

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PMID: 19251978
DOI: 10.1136/jmg.2008.058180

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