作者
Patrick F Chinnery, Salvatore DiMauro, Sara Shanske, Eric A Schon, Massimo Zeviani, Caterina Mariotti, Fanco Carrara, Anne Lombes, Pascal Laforet, Heléne Ogier, Michaela Jaksch, Hanns Lochmüller, Rita Horvath, Marcus Deschauer, David R Thorburn, Laurence A Bindoff, Joanna Poulton, Robert W Taylor, John NS Matthews, Douglass M Turnbull
发表日期
2004/8/14
期刊
The Lancet
卷号
364
期号
9434
页码范围
592-596
出版商
Elsevier
简介
Background
Pathogenic mitochondrial DNA (mtDNA) mutations are found in at least one in 8000 individuals. No effective treatment for mtDNA disorders is available, making disease prevention important. Many patients with mtDNA disease harbour a single pathogenic mtDNA deletion, but the risk factors for new cases and disease recurrence are not known.
Methods
We did a multicentre study of 226 families in which a single mtDNA deletion had been identified in the proband, including patients with chronic progressive external ophthalmoplegia, Kearns Sayre syndrome, or Pearson's syndrome. We studied the relation between maternal age and the risk of unaffected mothers having an affected child, and determined the recurrence risks among the siblings and offspring of affected individuals.
Findings
We noted no relation between maternal age and the risk of unaffected mothers having children with an mtDNA …
引用总数
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PF Chinnery, S DiMauro, S Shanske, EA Schon… - The Lancet, 2004