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355890 |
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|a Stewart, J.D.
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|a Hudson, G.
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|a Yu-
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|a Blakeley, E.L.
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|a He, L.
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|a Horvath, R.
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|a Maddison, P.
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|a Wright, A.
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|a Griffiths, P.G.
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|a Turnbull, D.M.
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|a Taylor, R.W.
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|a Chinnery, P.F.
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|a OPA1 in multiple mitochondrial DNA deletion disorders
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|c 2008.
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|u https://eprints.soton.ac.uk/355890/1/Stewart%2520et%2520al%252C%25202008.pdf
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|a Disorders of mitochondrial DNA (mtDNA) maintenance are a major cause of sporadic and inherited neurologic disease,1 but the underlying nuclear gene defects have yet to be identified in many patients. Following the recent description of multiple mtDNA deletions in seven families with mutations in OPA1,2-4 we determined the frequency of OPA1 mutations in adult patients with multiple mtDNA deletions who did not have mutations in POLG1, POLG2, SLC25A4, and PEO1.
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