Accurate measurement of mitochondrial DNA deletion level and copy number differences in human skeletal muscle. by John P Grady, Julie L Murphy, Emma L Blakely, Ronald G Haller, Robert W Taylor, Doug M Turnbull, Helen A L Tuppen

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Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death by Hannah Gillespie, Yi Shiau Ng, Katrina M. Wood, Sila Hopton, Charlotte L. Alston, Emma L. Blakely, Nick Thompson, Robert W. Taylor, Andrew C. Browning, Robert McFarland, John A. Sayer

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

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Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. by John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor

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