Ontology highlight
ABSTRACT:
SUBMITTER: Grady JP
PROVIDER: S-EPMC5991564 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
Grady John P JP Pickett Sarah J SJ Ng Yi Shiau YS Alston Charlotte L CL Blakely Emma L EL Hardy Steven A SA Feeney Catherine L CL Bright Alexandra A AA Schaefer Andrew M AM Gorman Gráinne S GS McNally Richard Jq RJ Taylor Robert W RW Turnbull Doug M DM McFarland Robert R
EMBO molecular medicine 20180601 6
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 <i>N</i> = 231, urine <i>N</i> = 235, skeletal muscle <i>N</i> = 77) represents the m.3243A>G mutation load and mitochondrial DNA (mtDNA) copy number most strongly associated with disease burden and progression. m.3243A>G levels are correlated in blood, mu ...[more]