NEWS and VIEWS: mitochondrial encephalomyopathies

Elena Caldarazzo Ienco, Daniele Orsucci, Vincenzo Montano, Elena Ferrari, Lucia Petrozzi, Marta Cheli, Annalisa LoGerfo, Costanza Simoncini, Gabriele Siciliano, Michelangelo Mancuso

Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa

In recent years, there has been a surge of interest in mitochondrial diseases, a group of metabolic conditions caused by impairment of the oxidative phosphorylation system. The ubiquitous presence of mitochondria in all the cells of the body, their role as cell powerhouse and their particular genetic characteristics explain the phenotypic complexity and the diagnostic difficulties, bridging from paediatrician to neurologist.

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