Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

We investigated the correlations of deletions of mitochondrial DNA in skeletal muscle with clinical manifestations of mitochondrial myopathies, a group of disorders defined either by biochemical abnormalities of mitochondria or by morphologic changes causing a ragged red appearance of the muscle fib...

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Veröffentlicht in:	The New England journal of medicine 1989-05, Vol.320 (20), p.1293-1299
Hauptverfasser:	Moraes, Carlos T, DiMauro, Salvatore, Zeviani, Massimo, Lombes, Anne, Shanske, Sara, Miranda, Armand F, Nakase, Hirofumi, Bonilla, Eduardo, Werneck, Lineu C, Servidei, Serenella, Nonaka, Ikuya, Koga, Yasutoshi, Spiro, Alfred J, W. Brownell, A. Keith, Schmidt, Beny, Schotland, Donald L, Zupanc, Mary, DeVivo, Darryl C, Schon, Eric A, Rowland, Lewis P
Format:	Artikel
Sprache:	eng
Schlagworte:	Blotting, Southern Chromosome Deletion DNA, Mitochondrial - analysis DNA, Mitochondrial - genetics Humans Kearns-Sayre Syndrome - genetics Mitochondria, Muscle - analysis NADH Dehydrogenase - metabolism NADPH-Ferrihemoprotein Reductase - metabolism Ophthalmoplegia - enzymology Ophthalmoplegia - genetics Phenotype Succinate Cytochrome c Oxidoreductase - metabolism
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