{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T03:02:01Z","timestamp":1772247721321,"version":"3.50.1"},"reference-count":20,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2020,1,25]],"date-time":"2020-01-25T00:00:00Z","timestamp":1579910400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Presented here are five members of a family that was ascertained from an isolated, consanguineous, indigenous Amerindian community in Colombia that was affected with calpain 3-related, limb-girdle muscular dystrophy type R1. These patients are homozygous for a unique and novel deletion of four bases (TGCC) in exon 3 of the calpain 3 gene (CAPN3) (NM_000070.2; NP_000061.1) (g.409_412del). The mutation site occurs at the CysPc protein domain, triggering a modified truncated protein structure and affecting motifs within the calpain-like thiol protease family (peptidase family C2) region. The patients reported here developed a very severe phenotype with primary contractures, spinal rigidity in the early stages of the disease, and bilateral talipes equinovarus (clubfoot) in the most affected patients who had the selective involvement of their extremities\u2019 distal muscles in a way that resembled Emery\u2013Dreifuss syndrome. We recommend mandatory screening for calpainopathy in all patients with an Emery\u2013Dreifuss-like syndrome or those presenting a non-congenital illness with primary contractures and who, because of other data, are suspected of having muscular dystrophy.<\/jats:p>","DOI":"10.3390\/genes11020129","type":"journal-article","created":{"date-parts":[[2020,1,27]],"date-time":"2020-01-27T07:41:11Z","timestamp":1580110871000},"page":"129","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Calpainopathy: Description of a Novel Mutation and Clinical Presentation with Early Severe Contractures"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6323-1170","authenticated-orcid":false,"given":"Iv\u00e1n","family":"Landires","sequence":"first","affiliation":[{"name":"Instituto de Ciencias M\u00e9dicas, Las Tablas, Los Santos 0710, Panama"},{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"},{"name":"Centro Regional Universitario de Azuero, CRUA, Universidad de Panam\u00e1, Chitr\u00e9 0601, Herrera, Panama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Virginia","family":"N\u00fa\u00f1ez-Samudio","sequence":"additional","affiliation":[{"name":"Instituto de Ciencias M\u00e9dicas, Las Tablas, Los Santos 0710, Panama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juli\u00e1n","family":"Fernandez","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cesar","family":"Sarria","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor","family":"Villareal","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Fernando","family":"C\u00f3rdoba","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Giovanni","family":"Apr\u00e1ez-Ippolito","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Fundaci\u00f3n Jos\u00e9 Mar\u00eda Delgado-Paredes para Promover la Investigaci\u00f3n en Medicina, Popay\u00e1n, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Oscar M.","family":"Vidal","sequence":"additional","affiliation":[{"name":"Universidad del Norte, Barranquilla 080008, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3146-7899","authenticated-orcid":false,"given":"Jorge I.","family":"V\u00e9lez","sequence":"additional","affiliation":[{"name":"Universidad del Norte, Barranquilla 080008, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mauricio","family":"Arcos-Holzinger","sequence":"additional","affiliation":[{"name":"Instituto de Ciencias M\u00e9dicas, Las Tablas, Los Santos 0710, Panama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sergio","family":"Landires","sequence":"additional","affiliation":[{"name":"Centro Integral de Radiodiagn\u00f3stico, Chitr\u00e9 0601, Herrera, Panama"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8529-0574","authenticated-orcid":false,"given":"Mauricio","family":"Arcos-Burgos","sequence":"additional","affiliation":[{"name":"Grupo de Investigaci\u00f3n en Psiquiatr\u00eda (GIPSI), Departamento de Psiquiatr\u00eda, Instituto de Investigaciones M\u00e9dicas, Facultad de Medicina, Universidad de Antioquia, Medell\u00edn 050010, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,1,25]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1093\/brain\/77.2.169","article-title":"On the classification, natural history and treatment of the myopathies","volume":"77","author":"Walton","year":"1954","journal-title":"Brain"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"S7","DOI":"10.3233\/JND-150105","article-title":"The Classification, Natural History and Treatment of the 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