Article
Clinical syndromes associated with mtDNA mutations: where we stand after 30 years.
Essays in biochemistry - 20 Jul 2018
Carelli Valerio, La Morgia Chiara
Abstract excerpt
The landmark year 1988 can be considered as the birthdate of mitochondrial medicine, when the first pathogenic mutations affecting mtDNA were associated with human diseases. Three decades later, the field still expands and we are not 'scraping the bottom of the barrel' yet. Despite the tremendous progress in terms of molecular characterization and genotype/phenotype correlations, for the vast majority of cases we...
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