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ETHE1 mutations are specific to ethylmalonic encephalopathy

V Tiranti1, E Briem, E Lamantea

  • 1Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study ofChildren's Mitochondrial Disorders, National Neurological Institute C. Besta, Via Temolo 4, 20126 Milan, Italy.

Journal of Medical Genetics
|September 27, 2005
PubMed
Summary

Mutations in the ETHE1 gene cause ethylmalonic encephalopathy (EE). Researchers found no ETHE1 mutations in similar conditions, ruling out SCAD variants in EE and suggesting ETHE1 is the primary cause.

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