Mineri R, Rimoldi M, Burlina AB, Koskull S, Perletti C, Heese B, von Döbeln U, Mereghetti P, Di Meo I, Invernizzi F, Zeviani M, Uziel G, Tiranti V
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy. [Journal Article, Research Support, Non-U.S. Gov't]
J Med Genet 2008 Jul; 45(7):473-8.
BACKGROUND: Ethylmalonic encephalopathy (EE) is a rare autosomal recessive metabolic disorder characterised by progressive encephalopathy, recurrent petechiae, acrocyanosis and chronic diarrhoea, with a fatal outcome in early in life.
METHODS: 14 patients with EE were investigated for mutations in the ETHE1 gene.
RESULTS: Of the 14 patients, 5 were found to carry novel mutations.
CONCLUSIONS: This work expands our knowledge of the causative mutations of EE.
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