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Pharmacogenet Genomics. 2013 Nov;23(11):624-6. doi: 10.1097/FPC.0b013e3283655053.

Severe toxicity and polymerase-γ gene abnormalities in Malawian adults on stavudine-based antiretroviral therapy.

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aMalawi-Liverpool Wellcome Trust Clinical Research Programme Departments of bMedicine cPathology, College of Medicine, Blantyre dDignitas International, Zomba, Malawi eInstitute of Genetic Medicine, Newcastle University, Newcastle, UK fDivision of Human Genetics, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.


In a cohort study of Malawian adults who were followed up through their second year of stavudine-containing antiretroviral therapy, we sequenced the polymerase-γ gene (POLG) of 10 of the 14 patients with the most severe stavudine side effects. No mutations were observed, suggesting that monogenic POLG mutations are not a common pathogenic determinant of severe stavudine-associated mitochondrial toxicity in Malawians.

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