Authors: Salvatore DiMauro
Publish Date: 2007/06/13
Volume: 27, Issue: 1-3, Pages: 5-9
Abstract
The small maternally inherited mitochondrial DNA mtDNA has turned out to be a hotbed of pathogenic mutations 15 years into the era of ‘mitochondrial medicine’ over 150 pathogenic point mutations and countless rearrangements have been associated with a variety of multisystemic or tissuespecific human diseases MtDNArelated disorders can be divided into two major groups those due to mutations in genes affecting mitochondrial protein synthesis in toto and those due to mutations in specific proteincoding genes Here we review the mitochondrial genetics and the clinical features of the mtDNArelated diseases
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