Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy

Michisuke Yuzaki, Norio Ohkoshi, Ichiro Kanazawa, Yasuo Kagawa, Shigeo Ohta

Research output: Contribution to journalArticlepeer-review

71 Citations (Scopus)

Abstract

Muscle mitochondrial DNAs from two brothers with mitochondrial myopathy associated with peripheral neuropathy had multiple deletions, most of which started in non-D-loop regions, unlike in an autosomal dominant mitochondrial myopathy (Zeviani, M. et al., Nature 339, 309 (1989)). The non-D-loop regions with deletions were amplified by the polymerase chain reaction and the resulting fragments were subcloned and then sequenced. At least 12 deletions of different lengths in different sites were found. However, all the deletions were flanked by short direct repeats (4-12 base pairs).

Original languageEnglish
Pages (from-to)1352-1357
Number of pages6
JournalBiochemical and Biophysical Research Communications
Volume164
Issue number3
DOIs
Publication statusPublished - 1989 Nov 15
Externally publishedYes

ASJC Scopus subject areas

  • Biophysics
  • Biochemistry
  • Molecular Biology
  • Cell Biology

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