Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy

Next Generation Sequencing and Electromyography Reveal the Involvement of the <i>P2RX6</i> Gene in Myopathy

Ion channelopathies result from impaired ion channel protein function, due to mutations affecting ion transport across cell membranes. Over 40 diseases, including neuropathy, pain, migraine, epilepsy, and ataxia, are associated with ion channelopathies, impacting electrically excitable tissues and s...

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Bibliographic Details
Main Authors: Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia
Format: Article
Language:English
Published: MDPI AG 2024-01-01
Series:Current Issues in Molecular Biology
Subjects:
early-onset myopathy
ion channelopathy
P2X receptors
whole exome sequencing
<i>P2RX6</i> gene
skeletal muscle
Online Access:https://www.mdpi.com/1467-3045/46/2/73

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https://www.mdpi.com/1467-3045/46/2/73

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