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Nucleic Acids Research, 1989, Vol. 17, No. 12 4465-4469
© 1989


MOLECULAR BIOLOGY

Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms

I.J. Holt, A.E. Harding* and J.A. Morgan-Hughes

University Department of Clinical Neurology, Institute of Neurology Queen Square, London WC1N 3BG, UK

*To whom correspondence should be addressed

Received April 14, 1989. Revised May 22, 1989. Accepted May 22, 1989.

Forty per cent of patients with mitochondrial myopathies, a diverse group of multisystem diseases predominantly affecting skeletal muscle and the brain, have large deletions of a proportion of muscle mitochondrial DNA (mt DNA). These appeared to be identical in 13 of 28 cases, contained within the region 8286–13595 bp. Analysis of the deletion junction in two cases showed a 13 nucleotide sequence which occurred in the normal genome as a direct repeat flanking the region deleted in the mutant mt DNAs. Mt DNA deletions may arise from recombination or slippage between short sequence repeats during replication.


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