A nonsense mutation in CHCHD2 in a patient with Parkinson disease
2016
While Parkinson disease (PD) was for many years regarded as a textbook example of a nongenetic disease, this view has dramatically changed over the past 2 decades with the identification of a number of genes, mutations in which cause monogenic PD. In recent years, the identification of disease genes was facilitated due to the advent of next-generation sequencing (NGS) resulting in an exponential increase in the number of reported disease genes.1 These observations require independent confirmation since the number of false-positive results has likewise considerably increased.2
Acknowledgment: The authors thank Frauke Hinrichs (technical assistant, Institute of Neurogenetics, University of Lubeck, Germany) for help collecting the data.
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