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Kinetic Alterations in Resurgent Sodium Currents of Mutant Na<sub>v</sub>1.4 Channel in Two Patients Affected by Paramyotonia Congenita

Paramyotonia congenita (PMC) is a rare skeletal muscle disorder characterized by muscle stiffness upon repetitive exercise and cold exposure. PMC was reported to be caused by dominant mutations in the SCN4A gene encoding the α subunit of the Na<sub>v</sub>1.4 channel. Recently, we identified two mis...

Ausführliche Beschreibung

Gespeichert in:
Hauptverfasser: Ming-Jen Lee, Pi-Chen Lin, Ming-Hong Lin, Hsin-Ying Clair Chiou, Kai Wang, Chiung-Wei Huang
Format: Artigo
Sprache:Inglês
Veröffentlicht: MDPI AG 2022-04-01
Schriftenreihe:Biology
Schlagworte:
paramyotonia congenita
Na<sub>v</sub>1.4 channel
resurgent currents
Online-Zugang:https://www.mdpi.com/2079-7737/11/4/613
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