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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Juvenile Alpers disease.

BACKGROUND: Alpers disease is commonly associated with polymerase gamma deficiency and usually affects infants or young children. OBJECTIVE: To report a juvenile case of Alpers disease due to mutations in the polymerase gamma gene (POLG1). DESIGN: Clinical, pathologic, biochemical, and molecular analysis. SETTING: Tertiary care university hospital and academic institutions. PATIENT: A 17-year-old adolescent girl with intractable epilepsy and liver disease. MAIN OUTCOME MEASURES: Clinical course and pathologic, biochemical, and molecular features. RESULTS: Biochemical and pathologic evidence suggested a respiratory chain defect, which was confirmed by enzyme analysis of the liver. Mutational analysis of POLG1 showed 2 novel mutations: T851A and R1047W. CONCLUSION: The POLG1 mutations can cause juvenile and childhood Alpers disease.[1]


  1. Juvenile Alpers disease. Wiltshire, E., Davidzon, G., DiMauro, S., Akman, H.O., Sadleir, L., Haas, L., Zuccollo, J., McEwen, A., Thorburn, D.R. Arch. Neurol. (2008) [Pubmed]
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