The group focuses on the study of pathogenic mechanisms of mitochondrial DNA mutations (mtDNA) associated with diverse neuromuscular syndromes. It is specially interested in understanding the pathogenic mechanisms involved in mutations of structural genes of mtDNA, as well as the adaptative mechanisms of the cell in the mtDNA depletion syndrome. In addition, it performs the genetic and molecular study of diverse neurological syndromes and glycogenosis type III and V.
