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 |
|---|---|
| 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)