Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression

We describe the clinical, biochemical 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...

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Detalles Bibliográficos
Autores principales: Gorman, Grainne S., Blakely, Emma L., Hornig-Do, Hue-Tran, Tuppen, Helen A.L., Greaves, Laura C., He, Langping, Baker, Angela, Falkous, Gavin, Newman, Jane, Trenell, Michael I., Lecky, Bryan, Petty, Richard K., Turnbull, Doug M., McFarland, Robert, Taylor, Robert W.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2015
Materias:
Original Papers
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613521/
https://www.ncbi.nlm.nih.gov/pubmed/25626417
http://dx.doi.org/10.1042/CS20140705

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4613521/
https://www.ncbi.nlm.nih.gov/pubmed/25626417
http://dx.doi.org/10.1042/CS20140705

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