Abstract
A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multisystem nature of KSS and supports the hypothesis that this is a genetic disease due to an alteration of mtDNA presumably arising in the oocyte or early embryo.
Original language | English |
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Pages (from-to) | 207-210 |
Number of pages | 4 |
Journal | Journal of the Neurological Sciences |
Volume | 96 |
Issue number | 2-3 |
DOIs | |
Publication status | Published - 1990 |
Keywords
- Kearns-Sayre syndrome
- Mitochondrial myopathies
- mtDNA deletions
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology