PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.

  title={PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum.},
  author={Roberta Marongiu and Alessandro Ferraris and T{\`a}mara Ialongo and Silvia Michiorri and Francesco Soleti and Francesca Ferrari and A E Elia and Daniele Ghezzi and Alberto Albanese and Maria Concetta Altavista and Angelo Antonini and Paolo Barone and Livia Brusa and Pietro Cortelli and Paolo Emilio Martinelli and M. T. Pellecchia and Gianni Pezzoli and Cesa Lorella Maria Scaglione and P Stanzione and Michele Tinazzi and Anna Lena Zecchinelli and Massimo Zeviani and Emanuele Cassetta and Barbara Garavaglia and Bruno Dallapiccola and Anna Rita Bentivoglio and Enza Maria Valente},
  journal={Human mutation},
  volume={29 4},
Heterozygous rare variants in the PINK1 gene, as well as in other genes causing autosomal recessive parkinsonism, have been reported both in patients and healthy controls. Their pathogenic significance is uncertain, but they have been suggested to represent risk factors to develop Parkinson disease (PD). The few large studies that assessed the frequency of PINK1 heterozygotes in cases and controls yielded controversial results, and the phenotypic spectrum is largely unknown. We retrospectively… CONTINUE READING

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