Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834082 | Molecular Genetics and Metabolism | 2010 | 6 Pages |
Abstract
The G10254A substitution in the mtDNA-ND3 gene is another cause of maternally inherited Leigh syndrome. This case demonstrates that periventricular pseudocysts may be the initial in utero presentation in patients with mitochondrial disorders. We emphasize the importance of screening the mtDNA in pediatric patients as the first step in molecular diagnosis of Leigh syndrome.
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Authors
Esther Leshinsky-Silver, Dorit Lev, Gustavo Malinger, Daniel Shapira, Sarit Cohen, Tally Lerman-Sagie, Ann Saada,