Article
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Journal of inherited metabolic disease - 1 Jan 2013
Cassandrini Denise, Cilio Maria Roberta, Bianchi Marzia, Doimo Mara, Balestri Martina, Tessa Alessandra, Rizza Teresa, Sartori Geppo, Meschini Maria Chiara, Nesti Claudia, Tozzi Giulia, Petruzzella Vittoria, Piemonte Fiorella, Bisceglia Luigi, Bruno Claudio, Dionisi-Vici Carlo, D'Amico Adele, Fattori Fabiana, Carrozzo Rosalba, Salviati Leonardo, Santorelli Filippo M, Bertini Enrico
Abstract excerpt
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of oxidative phosphorylation defects classified as pontocerebellar hypoplasia 6. We describe clinical, neuroimaging and molecular features on five patients from three unrelated families who displayed mutations in RARS2. All patients rapidly developed a neonatal or...
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