The unfolding clinical spectrum of POLG mutations.

  title={The unfolding clinical spectrum of POLG mutations.},
  author={Marinus J. Blok and Bianca J C van den Bosch and Eveline Jongen and Alexandra Hendrickx and Christine E M de Die-Smulders and Jessica E. Hoogendijk and Esther Brusse and Marianne de Visser and Bwee Tien Poll-The and J{\"o}rgen Bierau and Irineus F M de Coo and H J M Smeets},
  journal={Journal of medical genetics},
  volume={46 11},
BACKGROUND Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions. OBJECTIVE To determine the spectrum of POLG mutations in our Dutch patient cohort, to evaluate the pathogenicity of novel mutations, and to establish genotype-phenotype correlations. RESULTS The authors identified 64 predominantly recessive mutations in 37 patients from a total of 232 patients, consisting… CONTINUE READING


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