| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 10833906 | Molecular Genetics and Metabolism | 2012 | 6 Pages |
Abstract
⺠Buccal mitochondrial respiratory complex (RC) activities can be reliably assessed. ⺠We assessed buccal RC levels in mitochondrial disease (MD) patients and controls. ⺠This MD cohort had marked deficiencies in either RC I or IV activities in muscle. ⺠Patient buccal data had a similar RC defect profile compared to previous muscle data. ⺠Correlation with muscle enzyme data supports a role for buccal tests in MD diagnosis.
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Authors
Michael J. Goldenthal, Teddy Kuruvilla, Shirish Damle, Leon Salganicoff, Sudip Sheth, Nidhi Shah, Harold Marks, Divya Khurana, Ignacio Valencia, Agustin Legido,