Tissue distribution and transmission of mitochondrial DNA deletions in mitochondrial myopathies

M. Zeviani, C. Gellera, M. Pannacci, G. Uziel, A. Prelle, S. Servidei, S. DiDonato

Research output: Contribution to journalArticlepeer-review

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 languageEnglish
Pages (from-to)94-97
Number of pages4
JournalAnnals of Neurology
Volume28
Issue number1
Publication statusPublished - Jul 1990

ASJC Scopus subject areas

  • Neuroscience(all)

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