Kearns-Sayre Syndrome

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Xu, C. Kearns-Sayre Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4413 (accessed on 13 September 2026).

Xu C. Kearns-Sayre Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4413. Accessed September 13, 2026.

Xu, Camila. "Kearns-Sayre Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4413 (accessed September 13, 2026).

Xu, C. (2020, December 23). Kearns-Sayre Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4413

Xu, Camila. "Kearns-Sayre Syndrome." Encyclopedia. Web. 23 December, 2020.

Kearns-Sayre Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome

Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms.

genetic conditions

References

Goldstein A, Falk MJ. Mitochondrial DNA Deletion Syndromes. 2003 Dec 17[updated 2019 Jan 31]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1203/
Graeber MB, Müller U. Recent developments in the molecular genetics ofmitochondrial disorders. J Neurol Sci. 1998 Jan 8;153(2):251-63. Review.
Porteous WK, James AM, Sheard PW, Porteous CM, Packer MA, Hyslop SJ, MeltonJV, Pang CY, Wei YH, Murphy MP. Bioenergetic consequences of accumulating thecommon 4977-bp mitochondrial DNA deletion. Eur J Biochem. 1998 Oct1;257(1):192-201.
Schröder R, Vielhaber S, Wiedemann FR, Kornblum C, Papassotiropoulos A, BroichP, Zierz S, Elger CE, Reichmann H, Seibel P, Klockgether T, Kunz WS. New insightsinto the metabolic consequences of large-scale mtDNA deletions: a quantitativeanalysis of biochemical, morphological, and genetic findings in human skeletalmuscle. J Neuropathol Exp Neurol. 2000 May;59(5):353-60.
Sciacco M, Bonilla E, Schon EA, DiMauro S, Moraes CT. Distribution ofwild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. Hum Mol Genet. 1994Jan;3(1):13-9. Erratum in: Hum Mol Genet 1994 Apr;3(4):687.
Yamashita S, Nishino I, Nonaka I, Goto YI. Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions. J Hum Genet.2008;53(7):598. doi: 10.1007/s10038-008-0289-8.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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