Article
Mitochondrial DNA mutations and human disease.
Biochimica et biophysica acta - 1 Feb 2010
Tuppen Helen A L, Blakely Emma L, Turnbull Douglass M, Taylor Robert W
Abstract excerpt
Mitochondrial disorders are a group of clinically heterogeneous diseases, commonly defined by a lack of cellular energy due to oxidative phosphorylation (OXPHOS) defects. Since the identification of the first human pathological mitochondrial DNA (mtDNA) mutations in 1988, significant efforts have been spent in cataloguing the vast array of causative genetic defects of these disorders. Currently, more than 250...
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