Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10308590 | Seizure | 2013 | 4 Pages |
Abstract
Mutations in tRNAIle were described in patients with chronic progressive external ophthalmoplegia (CPEO), prominent deafness or cardiomyopathy but, up to now, not in patients with myoclonic epilepsy. The degree of heteroplasmy of this novel mitochondrial DNA mutation was 70% in skeletal muscle but only 15% in blood, pointing to the diagnostic importance of a skeletal muscle biopsy also in patients with myoclonic epilepsy.
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Authors
Gábor Zsurka, Felicitas Becker, Markus Heinen, Hans-Jürgen Gdynia, Holger Lerche, Wolfram S. Kunz, Yvonne G. Weber,