Abstract
By using a combination of Southern blot hybridization analysis, polymerase-chain reaction amplification, and direct nucleotide sequencing, we studied deletions of mitochondrial DNA (mtDNA) in several nonfamilial patients with progressive external ophthalmoplegia and Kearns-Sayre syndrome, and in some of their direct relatives. Results suggest that the heteroplasmic mtDNA populations are already present at a very early stage of development, and that there is no direct transmission of mtDNA heteroplasmy by maternal inheritance.
Original language | English |
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Pages (from-to) | 94-97 |
Number of pages | 4 |
Journal | Annals of Neurology |
Volume | 28 |
Issue number | 1 |
Publication status | Published - Jul 1990 |
ASJC Scopus subject areas
- Neuroscience(all)