Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms. |
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Authors: | I J Holt A E Harding and J A Morgan-Hughes |
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Institution: | University Department of Clinical Neurology, Institute of Neurology, London, UK. |
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Abstract: | 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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