{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T01:10:40Z","timestamp":1777857040005,"version":"3.51.4"},"reference-count":29,"publisher":"SAGE Publications","issue":"2","license":[{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T00:00:00Z","timestamp":1734652800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,3]]},"abstract":"<jats:p>\n                    <jats:italic toggle=\"yes\">CAPN3<\/jats:italic>\n                    encodes a calcium-activated skeletal muscle-specific protease. Pathogenic variants in\n                    <jats:italic toggle=\"yes\">CAPN3<\/jats:italic>\n                    are associated with autosomal recessive and dominant limb-girdle muscular dystrophy. We report on three children and one adult from four unrelated Iraqi Jewish families, who harbor the same homozygous variant in\n                    <jats:italic toggle=\"yes\">CAPN3<\/jats:italic>\n                    , p.Gln123Lys. Patients shared recognizable features of toe-walking and elevated creatine phosphokinase since childhood. The variant affects a conserved protein domain common to the calpain super family and likely represents a founder mutation in individuals of Iraqi Jewish ancestry. Our findings have potential implications on screening in relevant populations, allowing for more prompt diagnoses and future therapies.\n                  <\/jats:p>","DOI":"10.1177\/22143602241301658","type":"journal-article","created":{"date-parts":[[2024,12,20]],"date-time":"2024-12-20T08:56:03Z","timestamp":1734684963000},"page":"279-284","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A rare homozygous\n                    <i>CAPN3<\/i>\n                    variant with distinct clinical features in unrelated families of Iraqi Jewish descent"],"prefix":"10.1177","volume":"12","author":[{"given":"Nurit","family":"Assia Batzir","sequence":"first","affiliation":[{"name":"Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naama","family":"Orenstein","sequence":"additional","affiliation":[{"name":"Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel"},{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuval","family":"Yaron","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University, Tel Aviv, Israel"},{"name":"The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alla","family":"Kuzminsky","sequence":"additional","affiliation":[{"name":"Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoram","family":"Nevo","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University, Tel Aviv, Israel"},{"name":"Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Osnat","family":"Konen","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University, Tel Aviv, Israel"},{"name":"Diagnostic Imaging, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lily","family":"Bazak","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriel","family":"Lidzbarsky","sequence":"additional","affiliation":[{"name":"Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lina","family":"Basel-Salmon","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University, Tel Aviv, Israel"},{"name":"Raphael Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petah-Tikva, Israel"},{"name":"Felsenstein Medical Research Center, Rabin Medical Center, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7255-6276","authenticated-orcid":false,"given":"Sharon","family":"Aharoni","sequence":"additional","affiliation":[{"name":"Faculty of Medical &amp; Health Sciences, Tel Aviv University, Tel Aviv, Israel"},{"name":"Institute of Pediatric Neurology, Schneider Children's Medical Center of Israel, Petah-Tikva, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,12,20]]},"reference":[{"key":"e_1_3_4_2_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M601029200"},{"key":"e_1_3_4_3_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddv116"},{"key":"e_1_3_4_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn081"},{"key":"e_1_3_4_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1742-4658.2006.05351.x"},{"key":"e_1_3_4_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2008.08.005"},{"key":"e_1_3_4_7_2","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1997.5160"},{"key":"e_1_3_4_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/8385"},{"key":"e_1_3_4_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2018.05.007"},{"key":"e_1_3_4_10_2","first-page":"141","article-title":"A gene for limb-girdle muscular dystrophy maps to chromosome 15 by linkage","volume":"312","author":"Beckmann JS","year":"1991","unstructured":"Beckmann JS, Richard I, Hillaire D, et al. 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