Genetika nervosvalových onemocnění

Title in English Genetics of neuromuscular diseases


Year of publication 2019
Type Article in Periodical (without peer review)
MU Faculty or unit

Faculty of Medicine

Description The examination should be indicated by a clinician - neurologist or pediatric neurologist who is sufficiently instructed about the clinical picture of neuromuscular diseases, understands the limits of individual DNA examinations and in case of sequencing of a new generation is able to work with bio informatics sources. image and other auxiliary methods. Currently, mainly with MR muscles, histological examination or electrophysiology. In particular, sequencing the new generation requires, figuratively speaking, the neuromuscular experts of the new generation. These are often very rare diseases, when the number of inhabitants in the Czech Republic can be calculated in units or tens of cases for the whole population. Undoubtedly, it will be a narrow group of specialists who not only penetrate the clinical picture of these diseases, but have a number of other very specific examination methods available.
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