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Consequently, all known Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1 in this tissue. To date, four types of muscle diseases are known that can be linked to mutations in the\n                    <jats:italic>CACNA1S<\/jats:italic>\n                    gene or to splicing defects. These are hypo- and normokalemic periodic paralysis, malignant hyperthermia susceptibility, Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1-related myopathies, and myotonic dystrophy type 1. In addition, the Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1 function in EC coupling is perturbed in Native American myopathy, arising from mutations in the Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1-associated protein STAC3. Here, we first address general considerations concerning the possible roles of Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1 in disease and then discuss the state of the art regarding the pathophysiology of the Ca\n                    <jats:sub>V<\/jats:sub>\n                    1.1-related skeletal muscle diseases with an emphasis on molecular disease mechanisms.\n                  <\/jats:p>","DOI":"10.1007\/s00424-020-02368-3","type":"journal-article","created":{"date-parts":[[2020,3,28]],"date-time":"2020-03-28T02:02:51Z","timestamp":1585360971000},"page":"739-754","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":63,"title":["Skeletal muscle CaV1.1 channelopathies"],"prefix":"10.1007","volume":"472","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5255-4705","authenticated-orcid":false,"given":"Bernhard E.","family":"Flucher","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2020,3,28]]},"reference":[{"key":"2368_CR1","doi-asserted-by":"crossref","first-page":"17885","DOI":"10.1073\/pnas.0704340104","volume":"104","author":"Z Andronache","year":"2007","unstructured":"Andronache Z, Ursu D, Lehnert S, Freichel M, Flockerzi V, Melzer W (2007) The auxiliary subunit gamma 1 of the skeletal muscle L-type Ca2+ channel is an endogenous Ca2+ antagonist. 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