Article
Next generation sequencing panel as an effective approach to genetic testing in patients with a highly variable phenotype of neuromuscular disorders.
Neurogenetics - 1 Jul 2024
Radziwonik-Fraczyk Wiktoria, Elert-Dobkowska Ewelina, Karpinski Marek, Pilch Jacek, Ziora-Jakutowicz Karolina, Kubalska Jolanta, Szczesniak Dominika, Stepniak Iwona, Zaremba Jacek, Sulek Anna
Abstract excerpt
Neuromuscular disorders (NMDs) include a wide range of diseases affecting the peripheral nervous system. The genetic diagnoses are increasingly obtained with using the next generation sequencing (NGS). We applied the custom-design targeted NGS panel including 89 genes, together with genotyping and multiplex ligation-dependent probe amplification (MLPA) to identify a genetic spectrum of NMDs in 52 Polish patients....
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