Neurol. praxi. 2019;20(5):339-343 | DOI: 10.36290/neu.2019.138
Genetics of neuromuscular diseases
- Centrum molekulární biologie a genové terapie, Fakultní nemocnice Brno
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
Published: November 1, 2019 Show citation
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