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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion.

An 8-year-old girl with progressive ataxia and bulbar palsy showed diffuse white-matter lesions in the occipital to parietal lobes on magnetic resonance imaging. Since she had slightly elevated lactate in the cerebrospinal fluid, a muscle biopsy was done which revealed scattered ragged-red fibres and focal cytochrome c oxidase deficiency. Southern blot and polymerase-chain-reaction analyses revealed a large-scale mitochondrial DNA deletion, which was 6990 base-pairs in length with 6 base-pair (-TCATCG-) direct repeats at the junctions. Mitochondrial DNA mutation should be considered as one of the candidate causes for diffuse leukodystrophy in children.[1]


  1. Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion. Nakai, A., Goto, Y., Fujisawa, K., Shigematsu, Y., Kikawa, Y., Konishi, Y., Nonaka, I., Sudo, M. Lancet (1994) [Pubmed]
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