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J Med Genet. 2008 Jul;45(7):473-8. doi: 10.1136/jmg.2008.058271.

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy.

Author information

  • 1Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Mitochondrial Disorders in Children, RCCS Foundation Neurological Institute C. Besta, Milan, Italy.

Abstract

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.

PMID:
18593870
[PubMed - indexed for MEDLINE]
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