Neuromuscular disease and calcium channels.
Calcium channels that are regulated by voltage have an important role in linking cellular stimulation to physiological responses in the nervous system. In addition, a number of autoimmune or genetic disorders that affect calcium channels (channelopathies) have been identified, including several that affect neuromuscular function. These include the Lambert-Eaton myasthenic syndrome, which is associated with autoantibodies directed against neuronal calcium channels, as well as at least two inherited neuromuscular diseases-hypokalemic periodic paralysis and some varieties of malignant hyperthermia-that affect calcium channels in skeletal muscle. Preliminary progress has been achieved in understanding the relationship between these immunological or genetic abnormalities and the alterations in channel function that they produce. A major challenge that remains is to determine how calcium channelopathies lead to the curious assortment of paroxysmal and progressive disorders that are observed clinically.
Greenberg
D A
DA
Buck Center for Research in Aging, Novato, California, USA.
D000818:Animals; D015220:Calcium Channels / Q000235:genetics / Q000502:physiology*; D006801:Humans; D009154:Mutation / Q000502:physiology; D009468:Neuromuscular Diseases / Q000235:genetics / Q000503:physiopathology*; D020033:Protein Isoforms / Q000502:physiology
D015220:Calcium Channels; D020033:Protein Isoforms