{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T04:58:34Z","timestamp":1792299514081,"version":"4.4.0"},"reference-count":24,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T00:00:00Z","timestamp":1691625600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Brain Sciences"],"abstract":"<jats:p>Background: Congenital myopathy-13 (CMYP13), also known as Bailey-Bloch congenital myopathy and Native American myopathy (NAM), is a condition caused by biallelic missense pathogenic variants in STAC3, which encodes an important protein necessary for the excitation-relaxation coupling machinery in the muscle. Patients with biallelic pathogenic variants in STAC3 often present with congenital weakness and arthrogryposis, cleft palate, ptosis, myopathic facies, short stature, kyphoscoliosis, and susceptibility to malignant hyperthermia provoked by anesthesia. We present two unrelated cases of Bailey-Bloch congenital myopathy descendants of non-consanguineous parents, which were investigated for delayed psychomotor development and generalized weakness. To the best of our knowledge, these are the first descriptions of CMYP13 in Brazil. In both patients, we found the previously described pathogenic missense variant p.Trp284Ser in homozygosity. Conclusion: We seek to highlight the need for screening for CMYP13 in patients expressing the typical phenotype of the disease even in the absence of Lumbee Native American ancestry, and to raise awareness to possible complications like malignant hyperthermia in Bailey-Bloch congenital myopathy.<\/jats:p>","DOI":"10.3390\/brainsci13081184","type":"journal-article","created":{"date-parts":[[2023,8,10]],"date-time":"2023-08-10T10:11:22Z","timestamp":1691662282000},"page":"1184","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0009-0005-1023-6708","authenticated-orcid":false,"given":"Gustavo Rodrigues Ferreira","family":"Gomes","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Cear\u00e1 State University, Fortaleza 60714-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tamiris Carneiro","family":"Mariano","sequence":"additional","affiliation":[{"name":"Albert Sabin Pediatric Hospital (HIAS), Fortaleza 60410-794, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vitor Lucas Lopes","family":"Braga","sequence":"additional","affiliation":[{"name":"Albert Sabin Pediatric Hospital (HIAS), Fortaleza 60410-794, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7104-0128","authenticated-orcid":false,"given":"Erlane Marques","family":"Ribeiro","sequence":"additional","affiliation":[{"name":"Albert Sabin Pediatric Hospital (HIAS), Fortaleza 60410-794, Brazil"},{"name":"Faculty of Medicine, Unichristus University, Fortaleza 60160-196, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0146-0589","authenticated-orcid":false,"given":"Ingred Pimentel","family":"Guimar\u00e3es","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Cear\u00e1 State University, Fortaleza 60714-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K\u00e9sia Sindy Alves Ferreira","family":"Pereira","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Cear\u00e1 State University, Fortaleza 60714-903, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paulo Ribeiro","family":"N\u00f3brega","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Unichristus University, Fortaleza 60160-196, Brazil"},{"name":"Division of Neurology, Department of Clinical Medicine, Federal University of Cear\u00e1, Fortaleza 60430-372, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0043-5373","authenticated-orcid":false,"given":"Andr\u00e9 Luiz Santos","family":"Pessoa","sequence":"additional","affiliation":[{"name":"Faculty of Medicine, Cear\u00e1 State University, Fortaleza 60714-903, Brazil"},{"name":"Albert Sabin Pediatric Hospital (HIAS), Fortaleza 60410-794, Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,8,10]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1097\/WCO.0b013e32830f93c7","article-title":"Congenital myopathies","volume":"21","author":"Sewry","year":"2008","journal-title":"Curr. 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