期刊
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
卷 460, 期 2, 页码 239-248出版社
SPRINGER HEIDELBERG
DOI: 10.1007/s00424-010-0814-4
关键词
Myotonia; Paramyotonia congenita; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis; Congenital myasthenic syndrome; Excitability; Muscle; Channels; Sodium channel; Muscle strength
类别
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 Na(V)1.4, 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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