Disease progression in patients with single, large-scale mitochondrial DNA deletions

@inproceedings{Grady2014DiseasePI,
  title={Disease progression in patients with single, large-scale mitochondrial DNA deletions},
  author={John P Grady and Georgia Campbell and Thiloka Erandathi Ratnaike and Emma L. Blakely and Gavin Falkous and Victoria Nesbitt and Andrew M. Schaefer and Richard J. Mcnally and Gr{\'a}inne S. Gorman and Robert William Taylor and Douglass Matthew Turnbull and Robert McFarland},
  booktitle={Brain : a journal of neurology},
  year={2014}
}
Single, large-scale deletions of mitochondrial DNA are a common cause of mitochondrial disease and cause a broad phenotypic spectrum ranging from mild myopathy to devastating multi-system syndromes such as Kearns-Sayre syndrome. Studies to date have been inconsistent on the value of putative predictors of clinical phenotype and disease progression such as mutation load and the size or location of the deletion. Using a cohort of 87 patients with single, large-scale mitochondrial DNA deletions we… CONTINUE READING