Skip Nav Destination
Close Modal
Update search
Filter
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISSN
- EISSN
- Issue
- Volume
- References
Filter
- Title
- Author
- Author Affiliations
- Full Text
- Abstract
- Keyword
- DOI
- ISSN
- EISSN
- Issue
- Volume
- References
NARROW
Format
Article Type
Date
Availability
1-1 of 1
Keywords: MTND1
Close
Follow your search
Access your saved searches in your account
Would you like to receive an alert when new items match your search?
Sort by
Articles
Grainne S. Gorman, Emma L. Blakely, Hue-Tran Hornig-Do, Helen A.L. Tuppen, Laura C. Greaves, Langping He, Angela Baker, Gavin Falkous, Jane Newman, Michael I. Trenell, Bryan Lecky, Richard K. Petty, Doug M. Turnbull, Robert McFarland, Robert W. Taylor
Journal:
Clinical Science
Clin Sci (Lond) (2015) 128 (12): 895–904.
Published: 27 March 2015
... and molecular characterization of two adults with progressive exercise intolerance and severe isolated mitochondrial complex I (CI) deficiency due to novel MTND1 mutations. We demonstrate compensatory CI assembly factor up-regulation probably partially rescuing the clinical phenotype. 1 These authors...
