mt DNA 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) represents the m. 3243A> G mutation load and mitochondrial
DNA (mt DNA) copy number most strongly associated with disease burden and progression.
m. 3243A> G levels are correlated in blood, muscle and urine (R 2= 0.61–0.73). Blood …
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) represents the m. 3243A> G mutation load and mitochondrial
DNA (mt DNA) copy number most strongly associated with disease burden and progression.
m. 3243A> G levels are correlated in blood, muscle and urine (R 2= 0.61–0.73). Blood …
[引用][C] mt DNA heteroplasmy level and copy number indicate disease burden in m. 3243A> G mitochondrial disease. EMBO Mol Med 10
JP Grady, SJ Pickett, YS Ng, CL Alston, EL Blakely… - 2018
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