mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease

Mitochondrial disease associated with the pathogenic m.3243A>G variant is a common, clinically heterogeneous, neurogenetic disorder. Using multiple linear regression and linear mixed modelling, we evaluated which commonly assayed tissue (blood N = 231, urine N = 235, skeletal muscle N = 77) repre...

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Detalles Bibliográficos
Autores principales: Grady, John P, Pickett, Sarah J, Ng, Yi Shiau, Alston, Charlotte L, Blakely, Emma L, Hardy, Steven A, Feeney, Catherine L, Bright, Alexandra A, Schaefer, Andrew M, Gorman, Gráinne S, McNally, Richard JQ, Taylor, Robert W, Turnbull, Doug M, McFarland, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991564/
https://www.ncbi.nlm.nih.gov/pubmed/29735722
http://dx.doi.org/10.15252/emmm.201708262

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5991564/
https://www.ncbi.nlm.nih.gov/pubmed/29735722
http://dx.doi.org/10.15252/emmm.201708262

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