ETHE1 mutations are specific to ethylmalonic encephalopathy.
J Med Genet. 2006 Apr;43(4):340-6.
Tiranti V et al.
In this article, mutations in ETHE1 were identified in 29 patients with typical ethylmalonic encephalopathy, while no ETHE1 mutations were identified in 11 patients presenting with early onset progressive encephalopathy with ethylmalonic aciduria.
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Philippe Campeau, MD
Resident in Medical Genetics at McGill University
OMMBID Blog Administrator