| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 1998721 | Molecular Genetics and Metabolism | 2013 | 11 Pages |
Abstract
⺠Homozygous mutations in AGK gene identified in two families with Sengers syndrome ⺠Abnormal mitochondria with citrate synthase crystals visible in electron micrographs ⺠Presence of vascular strokes expands the clinical phenotype of Sengers syndrome.
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Authors
Komudi Siriwardena, Nevena MacKay, Valeriy Levandovskiy, Susan Blaser, Julian Raiman, Paul F. Kantor, Cameron Ackerley, Brian H. Robinson, Andreas Schulze, Jessie M. Cameron,