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Ann Neurol. 2002 Aug;52(2):237-9.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.

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  • 1University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom. j.taanman@rfc.ucl.ac.uk


Recently, a homozygous single-nucleotide deletion in exon 2 of the deoxyguanosine kinase gene (DGUOK) was identified as the disease-causing mutation in 3 apparently unrelated Israeli-Druze families with depleted hepatocerebral mitochondrial DNA. We have discovered a novel homozygous nonsense mutation in exon 3 of DGUOK (313C-->T) from a patient born to nonconsanguineous German parents. This finding shows that mutations in DGUOK causing mitochondrial DNA depletion are not confined to a single ethnic group.

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