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Kearns-Sayre syndrome: Encyclopedia BETA


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Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is a disease caused by a 5,000 base deletion in the mitochondrial DNA. As such, it is a rare genetic disease in that it can be heteroplasmic, that is, more than one genome can be in a cell at any given time. As with all mitochondrial diseases, it can only be maternally inherited.

Its expression is systemic, but many of the most common expressions are in the eyes, with ophthalmoplegia and retinal degeneration common features.

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