Article
Pearson syndrome and the role of deletion dimers and duplications in the mtDNA.
Journal of inherited metabolic disease - 1 Jan 2004
Jacobs L J A M, Jongbloed R J E, Wijburg F A, de Klerk J B C, Geraedts J P M, Nijland J G, Scholte H R, de Coo I F M, Smeets H J M
Abstract excerpt
Pearson syndrome is an often fatal multisystem disease associated with mitochondrial DNA rearrangements. Here we report a patient with a novel mtDNA deletion of 3.4 kb ranging from nucleotides 6097 to 9541 in combination with deletion dimers. The mutation percentage in different tissues (blood, muscle and liver) varied between 64% and 95%. After a remission period of about a year, the patient suddenly died at the...
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