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Understanding mitochondrial DNA maintenance disorders at the single muscle fibre level
Clonal expansion of mitochondrial DNA (mtDNA) deletions is an important pathological mechanism in adults with mtDNA maintenance disorders, leading to a mosaic mitochondrial respiratory chain deficiency in skeletal muscle. This study had two aims: (i) to determine if different Mendelian mtDNA mainten...
Autores principales: | Lehmann, Diana, Tuppen, Helen A L, Campbell, Georgia E, Alston, Charlotte L, Lawless, Conor, Rosa, Hannah S, Rocha, Mariana C, Reeve, Amy K, Nicholls, Thomas J, Deschauer, Marcus, Zierz, Stephan, Taylor, Robert W, Turnbull, Doug M, Vincent, Amy E |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698645/ https://www.ncbi.nlm.nih.gov/pubmed/31147703 http://dx.doi.org/10.1093/nar/gkz472 |
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