|Title||Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.|
|Publication Type||Journal Article|
|Year of Publication||1990|
|Authors||Zeviani, M, Gellera, C, Pannacci, M, Uziel, G, Prelle, A, Servidei, S, DiDonato, S|
|Date Published||1990 Jul|
|Keywords||Base Sequence, Blotting, Southern, DNA, Mitochondrial, Humans, Kearns-Sayre Syndrome, Molecular Sequence Data, Ophthalmoplegia, Polymerase Chain Reaction, Tissue Distribution|
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.
|Alternate Journal||Ann. Neurol.|