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 |
|---|---|
| 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 |
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Keywords
- Kearns-Sayre syndrome
- Mitochondrial myopathies
- mtDNA deletions
ASJC Scopus subject areas
- Ageing
- Clinical Neurology
- Surgery
- Neuroscience(all)
- Developmental Neuroscience
- Neurology
Cite this
Kearns-Sayre syndrome : Different amounts of deleted mitochondrial DNA are present in several autoptic tissues. / Ponzetto, C.; Bresolin, N.; Bordoni, A.; Moggio, M.; Meola, G.; Bet, L.; Prelle, A.; Scarlato, G.
In: Journal of the Neurological Sciences, Vol. 96, No. 2-3, 1990, p. 207-210.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Kearns-Sayre syndrome
T2 - Different amounts of deleted mitochondrial DNA are present in several autoptic tissues
AU - Ponzetto, C.
AU - Bresolin, N.
AU - Bordoni, A.
AU - Moggio, M.
AU - Meola, G.
AU - Bet, L.
AU - Prelle, A.
AU - Scarlato, G.
PY - 1990
Y1 - 1990
N2 - 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.
AB - 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.
KW - Kearns-Sayre syndrome
KW - Mitochondrial myopathies
KW - mtDNA deletions
UR - http://www.scopus.com/inward/record.url?scp=0025330764&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=0025330764&partnerID=8YFLogxK
U2 - 10.1016/0022-510X(90)90133-8
DO - 10.1016/0022-510X(90)90133-8
M3 - Article
VL - 96
SP - 207
EP - 210
JO - Journal of the Neurological Sciences
JF - Journal of the Neurological Sciences
SN - 0022-510X
IS - 2-3
ER -