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<jats:title>Abstract</jats:title><jats:p>Ca<jats:sub>V</jats:sub>1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known Ca<jats:sub>V</jats:sub>1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of Ca<jats:sub>V</jats:sub>1.1 in this tissue. To date, four types of muscle diseases are known that can be linked to mutations in the <jats:italic>CACNA1S</jats:italic> gene or to splicing defects. These are hypo- and normokalemic periodic paralysis, malignant hyperthermia susceptibility, Ca<jats:sub>V</jats:sub>1.1-related myopathies, and myotonic dystrophy type 1. In addition, the Ca<jats:sub>V</jats:sub>1.1 function in EC coupling is perturbed in Native American myopathy, arising from mutations in the Ca<jats:sub>V</jats:sub>1.1-associated protein STAC3. Here, we first address general considerations concerning the possible roles of Ca<jats:sub>V</jats:sub>1.1 in disease and then discuss the state of the art regarding the pathophysiology of the Ca<jats:sub>V</jats:sub>1.1-related skeletal muscle diseases with an emphasis on molecular disease mechanisms.</jats:p>
収録刊行物
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- Pflügers Archiv - European Journal of Physiology
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Pflügers Archiv - European Journal of Physiology 472 (7), 739-754, 2020-03-28
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