Abstract
The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.
Original language | English |
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Pages (from-to) | 482-487 |
Number of pages | 7 |
Journal | Journal of Neurology |
Volume | 254 |
Issue number | 4 |
Early online date | 31 Mar 2007 |
DOIs | |
Publication status | Published - 1 Apr 2007 |
Keywords
- motor neuron disease
- mitochondrial DNA
- mutation
- pathogenicity
- genome sequencing