Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
4173351 | Paediatrics and Child Health | 2009 | 6 Pages |
Abstract
Mitochondrial DNA (mtDNA) depletion is a profound reduction of mtDNA copy number. The mtDNA depletion syndromes (MDS) are a heterogeneous group of severe mitochondrial disorders of infancy and childhood. There are three main clinical presentations of MDS: myopathic, hepatocerebral and encephalomyopathic. Almost 60% of our MDS patients have been genetically characterised, and a strict association has been found between the encephalomyopathic MDS, SUCLA2 mutations and mild methylmalonic aciduria. The content of this manuscript refers to the Joint Conference (Ospedale Bambino Gesù/Mayo Eugenio Litta Children's Hospital ) held in May 9–11, 2007.
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Authors
Federica Deodato, Simona Lucioli, Cristiano Rizzo, Maria Chiara Meschini, Filippo M. Santorelli, Enrico Bertini, Carlo Dionisi-Vici, Rosalba Carrozzo,