Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
8399563 | Mitochondrion | 2014 | 29 Pages |
Abstract
The mutation appeared to have a very steep threshold effect with asymptomatic life up to 70% mutation proportion, progressive encephalopathy above 80% and severe Leigh-like syndrome above 95% mutation. One patient did not fit within that frame but presented with characteristics suggesting the presence of an additional disease.
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Authors
Matthew J. Fraidakis, Claude Jardel, Stéphane Allouche, Isabelle Nelson, Karine Auré, Abdelhamid Slama, Isabelle Lemière, Jean Philippe Thenint, Jean Baptiste Hamon, Fabien Zagnoli, Delphine Heron, Frédéric Sedel, Anne Lombès,