The mechanism underlying transient weakness in myotonia congenita

نویسندگان

چکیده

In addition to the hallmark muscle stiffness, patients with recessive myotonia congenita (Becker disease) experience debilitating bouts of transient weakness that remain poorly understood despite years study. We performed intracellular recordings from both genetic and pharmacologic mouse models Becker disease identify mechanism underlying weakness. Our reveal depolarizations (plateau potentials) membrane potential ?25 ?35 mV in disease. Both Na + Ca 2+ currents contribute plateau potentials. persistent inward current (NaPIC) through V 1.4 channels is key trigger potentials 1.1 contributes duration plateau. Inhibiting NaPIC ranolazine prevents development eliminates vivo. These data suggest targeting may be an effective treatment prevent congenita.

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ژورنال

عنوان ژورنال: eLife

سال: 2021

ISSN: ['2050-084X']

DOI: https://doi.org/10.7554/elife.65691