Structural Nuclear Genes in Mitochondrial Disease

Abbreviations

FP: Complex I or II flavoprotein fraction; IP: Complex I or II iron-sulfur protein fraction; HP: Complex I hydrophobic protein; AR: Autosomal Recessive; AD: Autosomal Dominant; LS: Leigh Syndrome

References

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9. Loeffen, J., Smeitink, J., Triepels, R., Smeets, R., Schuelke, M., Sengers, R., Trijbels, F., Hamel, B., Mullaart, R. and van den Heuvel, L. (1998). "The first nuclear-encoded complex I mutation in a patient with Leigh Syndrome." American Journal of Human Genetics 63(6):1598-1608.

10. Niemann, S. and Muller, U. (2000). "Mutations in SDHC cause autosomal dominant paraganglioma, type 3." Nature Genetics 26(3):268- 270.

11. Procaccio, V. and Wallace, D. C. (2004). "Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations." Neurology 62(10):1899-1901.

12. Smeitink, J. and van den Heuvel, L. (1999). "Protein Biosynthesis '99. Human mitochondrial complex I in health and disease." American Journal of Human Genetics 64(6):1505-1510.

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