Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation

► Leigh syndrome (LS) is an incurable neurodegenerative pediatric disorder that results from respiratory chain failure. ► LS is associated with mutations in ATP6 and ATP8 mitochondrial genes (mtDNA). ► We describe clinical and molecular features of a young woman with an unusual adult-onset LS while...

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Veröffentlicht in:	Biochemical and biophysical research communications 2011-08, Vol.412 (2), p.245-248
Hauptverfasser:	Ronchi, Dario, Bordoni, Andreina, Cosi, Alessandra, Rizzuti, Mafalda, Fassone, Elisa, Di Fonzo, Alessio, Servida, Maura, Sciacco, Monica, Collotta, Martina, Ronzoni, Marco, Lucchini, Valeria, Mattioli, Marco, Moggio, Maurizio, Bresolin, Nereo, Corti, Stefania, Comi, Giacomo P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset DNA, Mitochondrial - genetics Female Genes, Mitochondrial Humans Leigh Disease - genetics Leigh Disease - pathology Leigh disease maternally inherited Leigh’s disease Mitochondrial disease MT-ATP6 protein Muscle, Skeletal - pathology Mutation Pedigree
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