{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T01:17:52Z","timestamp":1787793472749,"version":"build-2784847793"},"reference-count":348,"publisher":"Rockefeller University Press","issue":"9","license":[{"start":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T00:00:00Z","timestamp":1660780800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100002426","name":"Fondazione Telethon","doi-asserted-by":"publisher","award":["GGP19291"],"award-info":[{"award-number":["GGP19291"]}],"id":[{"id":"10.13039\/501100002426","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["rupress.org"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,9,5]]},"abstract":"<jats:p>In skeletal muscle, Ca2+ necessary for muscle contraction is stored and released from the sarcoplasmic reticulum (SR), a specialized form of endoplasmic reticulum through the mechanism known as excitation\u2013contraction (E-C) coupling. Following activation of skeletal muscle contraction by the E-C coupling mechanism, replenishment of intracellular stores requires reuptake of cytosolic Ca2+ into the SR by the activity of SR Ca2+-ATPases, but also Ca2+ entry from the extracellular space, through a mechanism called store-operated calcium entry (SOCE). The fine orchestration of these processes requires several proteins, including Ca2+ channels, Ca2+ sensors, and Ca2+ buffers, as well as the active involvement of mitochondria. Mutations in genes coding for proteins participating in E-C coupling and SOCE are causative of several myopathies characterized by a wide spectrum of clinical phenotypes, a variety of histological features, and alterations in intracellular Ca2+ balance. This review summarizes current knowledge on these myopathies and discusses available knowledge on the pathogenic mechanisms of disease.<\/jats:p>","DOI":"10.1085\/jgp.202213115","type":"journal-article","created":{"date-parts":[[2022,8,18]],"date-time":"2022-08-18T13:40:06Z","timestamp":1660830006000},"update-policy":"https:\/\/doi.org\/10.1085\/jgp.crossmarkpolicy","source":"Crossref","is-referenced-by-count":25,"title":["Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies"],"prefix":"10.1085","volume":"154","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0463-7327","authenticated-orcid":true,"given":"Daniela","family":"Rossi","sequence":"first","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy 1"},{"name":"Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliero Universitaria Senese, Siena, Italy 2"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0294-9036","authenticated-orcid":true,"given":"Maria Rosaria","family":"Catallo","sequence":"additional","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enrico","family":"Pierantozzi","sequence":"additional","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy 1"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8573-8631","authenticated-orcid":true,"given":"Vincenzo","family":"Sorrentino","sequence":"additional","affiliation":[{"name":"Department of Molecular and Developmental Medicine, University of Siena, Siena, Italy 1"},{"name":"Interdepartmental Program of Molecular Diagnosis and Pathogenetic Mechanisms of Rare Genetic Diseases, Azienda Ospedaliero Universitaria Senese, Siena, Italy 2"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"291","published-online":{"date-parts":[[2022,8,18]]},"reference":[{"key":"2023072122420512400_bib1","doi-asserted-by":"publisher","first-page":"975","DOI":"10.1016\/j.nmd.2017.05.016","article-title":"Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients","volume":"27","author":"Abath Neto","year":"2017","journal-title":"Neuromuscul. 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