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

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

Abstract 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 = ...

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Main Authors: John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland
Format: Article
Language:English
Published: Springer Nature 2018-05-01
Series:EMBO Molecular Medicine
Subjects:
m.3243A>G
MELAS
mitochondrial disease
mtDNA copy number
mtDNA heteroplasmy
Online Access:https://doi.org/10.15252/emmm.201708262
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https://doi.org/10.15252/emmm.201708262

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