Genetika dědičných svalových onemocnění // SOLEN

Neurológia pre prax 5/2019

Genetics of neuromuscular diseases

Hereditary neuromuscular diseases are rare diseases characterised by large clinical and genetic heterogeneity. The progress in molecular genetic methods especially massive parallel sequencing leads to increase knowledge of their genetic causes and etiopathogenesis that enables the prediction of clinical course or the using of targeted therapy.

Keywords: neuromuscular diseases, dystrophy, myopathy, massive parallel sequencing