Sodium channelopathies of skeletal muscle result from gain or loss of function

被引：0
作者：
Karin Jurkat-Rott
Boris Holzherr
Michael Fauler
Frank Lehmann-Horn
机构：
[1] Ulm University,Institute of Applied Physiology
来源：
Pflügers Archiv - European Journal of Physiology | 2010年 / 460卷
关键词：
Myotonia; Paramyotonia congenita; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis; Congenital myasthenic syndrome; Excitability; Muscle; Channels; Sodium channel; Muscle strength;
D O I：
暂无
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学科分类号：
摘要：
Five hereditary sodium channelopathies of skeletal muscle have been identified. Prominent symptoms are either myotonia or weakness caused by an increase or decrease of muscle fiber excitability. The voltage-gated sodium channel NaV1.4, initiator of the muscle action potential, is mutated in all five disorders. Pathogenetically, both loss and gain of function mutations have been described, the latter being the more frequent mechanism and involving not just the ion-conducting pore, but aberrant pores as well. The type of channel malfunction is decisive for therapy which consists either of exerting a direct effect on the sodium channel, i.e., by blocking the pore, or of restoring skeletal muscle membrane potential to reduce the fraction of inactivated channels.
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页码：239 / 248
页数：9
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