Article
Molecular analysis in a family presenting with a mild form of late-onset autosomal dominant chronic progressive external ophthalmoplegia.
Neuromuscular disorders : NMD - 1 Jun 2009
Negro Roberto, Zoccolella Stefano, Dell'aglio Rosa, Amati Angela, Artuso Lucia, Bisceglia Luigi, Lavolpe Vito, Papa Sergio, Serlenga Luigi, Petruzzella Vittoria
Abstract excerpt
Nuclear genes affecting mitochondrial genome stability were screened in an Italian family presenting with autosomal dominant progressive external ophthalmoplegia (adPEO) associated with multiple mitochondrial DNA (mtDNA) deletions. We report on a heterozygous c.907C>T (p.R303W) mutation found in the N-terminal domain of the human mitochondrial DNA helicase, Twinkle protein, in six members of a family, in which...
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