TY - JOUR
T1 - Ion-channel defects and aberrant excitability in myotonia and periodic paralysis
AU - Cannon, Stephen C.
N1 - Funding Information:
Work in the author's laboratory has been supported by the National Institutes of Health (AR42703), the Muscular Dystrophy Association, the Howard Hughes Medical Institute and the Alfred P. Sloan Foundation.
PY - 1996/1
Y1 - 1996/1
N2 - The myotonias and periodic paralyses are a diverse group of skeletal muscle disorders that share a common pathophysiological mechanism: all are caused by derangements in the electrical excitability of the sarcolemma. Mutations within coding regions of ion-channel genes have been identified recently as the underlying molecular defects in these heritable disorders. Chloride-channel mutations cause a reduction in the resting conductance, which enhances excitability and gives rise to myotonia. By contrast, missense mutations in the L-type Ca2+ channel reduce the electrical excitability of the fiber and cause a form of periodic paralysis. Mutations of the sodium channel impair inactivation of the channel, which, depending on the type and severity of the functional defect, results in either paralysis or myotonia.
AB - The myotonias and periodic paralyses are a diverse group of skeletal muscle disorders that share a common pathophysiological mechanism: all are caused by derangements in the electrical excitability of the sarcolemma. Mutations within coding regions of ion-channel genes have been identified recently as the underlying molecular defects in these heritable disorders. Chloride-channel mutations cause a reduction in the resting conductance, which enhances excitability and gives rise to myotonia. By contrast, missense mutations in the L-type Ca2+ channel reduce the electrical excitability of the fiber and cause a form of periodic paralysis. Mutations of the sodium channel impair inactivation of the channel, which, depending on the type and severity of the functional defect, results in either paralysis or myotonia.
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U2 - 10.1016/0166-2236(96)81859-5
DO - 10.1016/0166-2236(96)81859-5
M3 - Article
C2 - 8787138
AN - SCOPUS:0030068496
SN - 0166-2236
VL - 19
SP - 3
EP - 10
JO - Trends in Neurosciences
JF - Trends in Neurosciences
IS - 1
ER -