Gomes Gustavo Rodrigues Ferreira, Mariano Tamiris Carneiro, Braga Vitor Lucas Lopes, Ribeiro Erlane Marques, Guimarães Ingred Pimentel, Pereira Késia Sindy Alves Ferreira, Nóbrega Paulo Ribeiro, Pessoa André Luiz Santos
Faculty of Medicine, Ceará State University, Fortaleza 60714-903, Brazil.
Albert Sabin Pediatric Hospital (HIAS), Fortaleza 60410-794, Brazil.
Brain Sci. 2023 Aug 10;13(8):1184. doi: 10.3390/brainsci13081184.
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 , which encodes an important protein necessary for the excitation-relaxation coupling machinery in the muscle. Patients with biallelic pathogenic variants in 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.
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.
先天性肌病13型（CMYP13），也称为贝利 - 布洛赫先天性肌病和美洲原住民肌病（NAM），是一种由 基因双等位基因错义致病变异引起的疾病，该基因编码肌肉兴奋 - 舒张偶联机制所必需的一种重要蛋白质。 基因双等位基因致病变异的患者通常表现为先天性肌无力、关节挛缩、腭裂、上睑下垂、肌病面容、身材矮小、脊柱侧凸以及对麻醉诱发的恶性高热敏感。我们报告了两例非近亲父母的贝利 - 布洛赫先天性肌病后代，他们因精神运动发育迟缓及全身无力接受调查。据我们所知，这是巴西对CMYP13的首次描述。在两名患者中，我们均发现了先前报道的纯合致病性错义变异p.Trp284Ser。
我们旨在强调，即使没有伦拜印第安人血统，对于表现出该病典型表型的患者也需要进行CMYP13筛查，并提高对贝利 - 布洛赫先天性肌病中恶性高热等可能并发症的认识。
