Due to the technical development of the last decades, we can identify molecular alterations in the background of more and more rare diseases. Among rare diseases, perhaps the greatest development has been achieved in the exploration of the genetic background of neurogenetic diseases. However, the exact role of the genotype in the pathomechanism is not always clear, a number of new results in this area are expected with the latest examination methods. These results, in addition to making much more accurate prognosis for the patient- can serve as a basis for development of innovative therapies.
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