Key result
The R528H mutation in human skeletal myotubes caused a mild reduction in L-type Ca current density and a significant slowing of the rate of activation, without affecting the voltage dependence of activation or inactivation.
Population
Myotubes cultured from three normal individuals and from one patient carrying the HypoPP mutation R528H
Comparison
Presence of the HypoPP mutation R528H vs Myotubes from normal individuals
Design
Preclinical
Authors
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May refine HypoPP management strategies; leaves open validation in prospective patient cohorts.
Absolute Event Rate: 1.14% vs 1.78%
p-value: p=<0.001
The R528H mutation associated with hypokalemic periodic paralysis causes an activation defect in skeletal muscle L-type calcium channels.
Morrill et al. (1998) studied Hypokalemic periodic paralysis (n=4). R528H mutation vs. Wild-type (normal) L-type Ca channel was evaluated on L-type Ca current density (p=<0.001). The R528H mutation in human skeletal myotubes caused a mild reduction in L-type Ca current density and a significant slowing of the rate of activation, without affecting the voltage dependence of activation or inactivation.
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