2008•Biochimica et Biophysica Acta (BBA) - BioenergeticsOpen access

Identification of novel mutations in five patients with mitochondrial encephalomyopathy

Lucia Valente, Daniela Piga, Eleonora Lamantea, Franco Carrara, Graziella Uziel, Paola Cudia, Anna Zani, Laura Farina, Lucía Morandi, Marina Mora, Antonella Spinazzola, Massimo Zeviani, Valeria Tiranti

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Key concepts: Heteroplasmy, Mitochondrial DNA, Mitochondrial encephalomyopathy, Mitochondrial disease, Genetics, Biology, Point mutation, Mutation