Article
Risk of developing a mitochondrial DNA deletion disorder.
Lancet (London, England) - 1 Jan 2000
Chinnery Patrick F, DiMauro Salvatore, Shanske Sara, Schon Eric A, Zeviani Massimo, Mariotti Caterina, Carrara Fanco, Lombes Anne, Laforet Pascal, Ogier Helène, Jaksch Michaela, Lochmüller Hanns, Horvath Rita, Deschauer Marcus, Thorburn David R, Bindoff Laurence A, Poulton Joanna, Taylor Robert W, Matthews John N S, Turnbull Douglass M
Abstract excerpt
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...
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