MUSCLE CHANNELOPATHIES

David S. Saperstein Muscle Diseases p. 121-139 June 2006, Vol.12, No.3 doi: 10.1212/01.CON.0000290465.34703.fd
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The term channelopathies has come to describe a group of disorders caused by mutations in genes coding for cell membrane ion channels. This concept has proven valuable for classifying disorders and understanding their etiology. In the case of muscle channelopathies, it has been especially helpful in the understanding of a group of rare disorders that, on the surface, are different. However, knowledge of shared genotypes has facilitated a simpler classification and understanding of disorders such as paramyotonia congenita and periodic paralysis. The muscle diseases discussed in this section include the nondystrophic myotonias and the periodic paralyses (Table 4-1).

© 2006 American Academy of Neurology