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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Detalhes bibliográficos
Publicado no:EMBO Mol Med
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2018
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5991564/
https://ncbi.nlm.nih.gov/pubmed/29735722
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.15252/emmm.201708262
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