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Letter

Nature Genetics 38, 570–575 (1 May 2006) | doi:10.1038/ng1765

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Antonella Spinazzola , Carlo Viscomi , Erika Fernandez-Vizarra , Franco Carrara , Pio D'Adamo , Sarah Calvo , Ren|[eacute]| Massimiliano Marsano , Claudia Donnini , Hans Weiher , Pietro Strisciuglio , Rossella Parini , Emmanuelle Sarzi , Alicia Chan , Salvatore DiMauro , Agnes R|[ouml]|tig , Paolo Gasparini , Iliana Ferrero , Vamsi K Mootha , Valeria Tiranti & Massimo Zeviani

The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading to organ failure. There are two main clinical presentations: myopathic (OMIM 609560) and hepatocerebral (OMIM 251880).