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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
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