Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations

@article{Ferreira2011RelativeFO,
  title={Relative frequency of known causes of multiple mtDNA deletions: Two novel POLG mutations},
  author={Mariana Ferreira and Teresinha Evangelista and L{\'i}gia S. Almeida and Jo{\~a}o Martins and Filippo Maria Santorelli},
  journal={Neuromuscular Disorders},
  year={2011},
  volume={21},
  pages={483-488}
}
Diseases affecting mtDNA stability, termed nuclear-mitochondrial intergenomic communication disorders, are caused by a primary nuclear gene defect resulting in multiple mtDNA deletions. The aim of this study was to estimate the frequency of known etiologies and the spectrum of mutations in a cohort of 21 patients harboring multiple mtDNA deletions in skeletal muscle. We showed that 10 cases (48%) display mutations in POLG, including eight previously reported variants and two novel mutations… CONTINUE READING

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