Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

doi:10.1016/j.nmd.2020.12.003

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Article

Next-generation sequencing application to investigate skeletal muscle channelopathies in a large cohort of Italian patients.

Neuromuscular disorders : NMD - 1 Apr 2021

Brugnoni Raffaella, Maggi Lorenzo, Canioni Eleonora, Verde Federico, Gallone Annamaria, Ariatti Alessandra, Filosto Massimiliano, Petrelli Cristina, Logullo Francesco Ottavio, Esposito Marcello, Ruggiero Lucia, Tonin Paola, Riguzzi Pietro, Pegoraro Elena, Torri Francesca, Ricci Giulia, Siciliano Gabriele, Silani Vincenzo, Merlini Luciano, De Pasqua Silvia, Liguori Rocco, Pini Antonella, Mariotti Caterina, Moroni Isabella, Imbrici Paola, Desaphy Jean-Francois, Mantegazza Renato, Bernasconi Pia

Abstract excerpt

Non-dystrophic myotonias and periodic paralyses are a heterogeneous group of disabling diseases classified as skeletal muscle channelopathies. Their genetic characterization is essential for prognostic and therapeutic purposes; however, several genes are involved. Sanger-based sequencing of a single gene is time-consuming, often expensive; thus, we designed a next-generation sequencing panel of 56 putative...

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PMID: 33573884
DOI: 10.1016/j.nmd.2020.12.003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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