1 results match your criteria: "RCCS Foundation Neurological Institute C. Besta[Affiliation]"
Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.
J Med Genet
July 2008
Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C. Besta, Milan, Italy.
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.