{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T07:17:12Z","timestamp":1790234232490,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2017,9,30]],"date-time":"2017-09-30T00:00:00Z","timestamp":1506729600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100014535","name":"Mayo Clinic Center for Individualized Medicine","doi-asserted-by":"crossref","award":["RFA 48.07"],"award-info":[{"award-number":["RFA 48.07"]}],"id":[{"id":"10.13039\/100014535","id-type":"DOI","asserted-by":"crossref"}]},{"name":"Department of Neurology, Mayo Clinic"},{"name":"Iowa Wellstone Muscular Dystrophy Cooperative Research Center U54","award":["NS053672"],"award-info":[{"award-number":["NS053672"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2018,4]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> A calpain\u20103 (<jats:italic>CAPN3<\/jats:italic>) gene heterozygous deletion (c.643_663del21) was recently linked to autosomal dominant (AD) limb\u2010girdle muscular dystrophy. However, the possibility of digenic disease was raised. We describe 3 families with AD calpainopathy carrying this isolated mutation. <jats:italic>Methods:<\/jats:italic> Probands heterozygous for <jats:italic>CAPN3<\/jats:italic> c.643_663del21 were identified by targeted next generation or whole exome sequencing. Clinical findings were collected for probands and families. Calpain\u20103 muscle Western blots were performed in 3 unrelated individuals. <jats:italic>Results:<\/jats:italic> Probands reported variable weakness in their 40s or 50s, with myalgia, back pain, or hyperlordosis. Pelvic girdle muscles were affected with adductor and hamstring sparing. Creatine kinase was normal to 1,800 U\/L, independent of weakness severity. Imaging demonstrated lumbar paraspinal muscle atrophy. Electromyographic findings and muscle biopsies were normal to mildly myopathic. Muscle calpain\u20103 expression was reduced. <jats:italic>Discussion:<\/jats:italic> This study provides further evidence for AD calpainopathy associated with <jats:italic>CAPN3<\/jats:italic> c.643_663del21. No pathogenic variants in other genes known to cause myopathy were detected. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>57<\/jats:bold>: 679\u2013683, 2018<\/jats:p>","DOI":"10.1002\/mus.25970","type":"journal-article","created":{"date-parts":[[2017,9,7]],"date-time":"2017-09-07T19:51:28Z","timestamp":1504813888000},"page":"679-683","source":"Crossref","is-referenced-by-count":41,"title":["Autosomal dominant calpainopathy due to heterozygous <i>CAPN3<\/i> C.643_663del21"],"prefix":"10.1002","volume":"57","author":[{"given":"Jennifer M.","family":"Martinez\u2010Thompson","sequence":"first","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW, Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhiyv","family":"Niu","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine &amp; Pathology Mayo Clinic Rochester Minnesota USA"},{"name":"Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer A.","family":"Tracy","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW, Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven A.","family":"Moore","sequence":"additional","affiliation":[{"name":"Department of Pathology University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Swenson","sequence":"additional","affiliation":[{"name":"Department of Neurology University of Iowa Iowa City Iowa USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric D.","family":"Wieben","sequence":"additional","affiliation":[{"name":"Department of Biochemistry &amp; Molecular Biology Mayo Clinic Rochester Minnesota USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margherita","family":"Milone","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic 200 First Street SW, Rochester Minnesota 55905 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2017,9,30]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(95)90368-2"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddn081"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.23.24.9127-9135.2003"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1017\/erm.2016.9"},{"key":"e_1_2_7_6_1","first-page":"1","article-title":"Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies","volume":"13","author":"Hauerslev S","year":"2012","journal-title":"BMC Musc Dis"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/acn3.287"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1017\/erm.2014.17"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww133"},{"key":"e_1_2_7_10_1","first-page":"1","article-title":"Dominant LGMD2A: alternative diagnosis of hidden digenism?","volume":"140","author":"Saenz A","year":"2016","journal-title":"Brain"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww283"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0000000000003320"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.wnl.0000187073.58307.41"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-08-045031-5.00006-2"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-3495(01)76229-7"}],"container-title":["Muscle &amp; 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