Journal
PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
Volume 460, Issue 2, Pages 239-248Publisher
SPRINGER HEIDELBERG
DOI: 10.1007/s00424-010-0814-4
Keywords
Myotonia; Paramyotonia congenita; Hyperkalemic periodic paralysis; Hypokalemic periodic paralysis; Congenital myasthenic syndrome; Excitability; Muscle; Channels; Sodium channel; Muscle strength
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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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