Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.

TitleTissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies.
Publication TypeJournal Article
Year of Publication1990
AuthorsZeviani, M, Gellera, C, Pannacci, M, Uziel, G, Prelle, A, Servidei, S, DiDonato, S
JournalAnn Neurol
Volume28
Issue1
Pagination94-7
Date Published1990 Jul
ISSN0364-5134
KeywordsBase Sequence, Blotting, Southern, DNA, Mitochondrial, Humans, Kearns-Sayre Syndrome, Molecular Sequence Data, Ophthalmoplegia, Polymerase Chain Reaction, Tissue Distribution
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.

DOI10.1002/ana.410280118
Alternate JournalAnn. Neurol.
Citation Key10.1002/ana.410280118
PubMed ID2375642