
		About Site Map Contact Us
	A service of the U.S. National Library of Medicine®
Home Conditions Genes Chromosomes Handbook Glossary Resources

Genetic Conditions > Alpers-Huttenlocher syndrome >

References

These sources were used to develop the Genetics Home Reference condition summary on Alpers-Huttenlocher syndrome.

Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6. Epub 2005 Jul 16. PubMed citation
Gene Review: POLG-Related Disorders
Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations. Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review. PubMed citation
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, Schon EA, DiMauro S. mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501. PubMed citation
Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Molecular diagnosis of Alpers syndrome. J Hepatol. 2006 Jul;45(1):108-16. Epub 2006 Feb 20. PubMed citation
Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M, Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008 Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5. Epub 2008 Apr 16. PubMed citation
Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi: 10.1007/s00018-010-0530-4. Epub 2010 Oct 8. Review. PubMed citation

Reviewed: June 2011

Published: May 13, 2013