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References

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

Gene Review: Mitochondrial DNA Deletion Syndromes
Graeber MB, Müller U. Recent developments in the molecular genetics of mitochondrial disorders. J Neurol Sci. 1998 Jan 8;153(2):251-63. Review. PubMed citation
Porteous WK, James AM, Sheard PW, Porteous CM, Packer MA, Hyslop SJ, Melton JV, Pang CY, Wei YH, Murphy MP. Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion. Eur J Biochem. 1998 Oct 1;257(1):192-201. PubMed citation
Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, Broich P, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. New insights into the metabolic consequences of large-scale mtDNA deletions: a quantitative analysis of biochemical, morphological, and genetic findings in human skeletal muscle. J Neuropathol Exp Neurol. 2000 May;59(5):353-60. PubMed citation
Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 1994 Jan;3(1):13-9. Erratum in: Hum Mol Genet 1994 Apr;3(4):687. PubMed citation
Yamashita S, Nishino I, Nonaka I, Goto Y. Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet. 2008;53(7):598-606. doi: 10.1007/s10038-008-0289-8. Epub 2008 Apr 15. PubMed citation

Reviewed: December 2011

Published: May 20, 2013