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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...

Whakaahuatanga katoa

I tiakina i:
Ngā kaituhi matua: Mirella Vinci, Girolamo Aurelio Vitello, Donatella Greco, Simone Treccarichi, Alda Ragalmuto, Antonino Musumeci, Antonio Fallea, Concetta Federico, Francesco Calì, Salvatore Saccone, Maurizio Elia
Hōputu: Artigo
Reo:Inglês
I whakaputaina: MDPI AG 2024-01-01
Rangatū:Current Issues in Molecular Biology
Ngā marau:
early-onset myopathy
ion channelopathy
P2X receptors
whole exome sequencing
<i>P2RX6</i> gene
skeletal muscle
Urunga tuihono:https://www.mdpi.com/1467-3045/46/2/73
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