Article
Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
Biochimica et biophysica acta - 1 May 2009
Valente Lucia, Piga Daniela, Lamantea Eleonora, Carrara Franco, Uziel Graziella, Cudia Paola, Zani Anna, Farina Laura, Morandi Lucia, Mora Marina, Spinazzola Antonella, Zeviani Massimo, Tiranti Valeria
Abstract excerpt
MELAS, MERRF, LHON and NARP, are well-established mitochondrial syndromes associated with specific point mutations of mitochondrial DNA (mtDNA). However, these recurrent mtDNA mutations account for only a minority of mitochondrial disease cases. To evaluate the impact of novel mtDNA mutations, we performed mtDNA sequence analysis in muscle and other tissues of 240 patients with different mitochondrial...
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