| Title: |
Bailey-Bloch Congenital Myopathy in Brazilian Patients: A Very Rare Myopathy with Malignant Hyperthermia Susceptibility. |
| Authors: |
Gomes, Gustavo Rodrigues Ferreira1 (AUTHOR) gustavo_r_f_gomes@hotmail.com, Mariano, Tamiris Carneiro2 (AUTHOR) dratamirismariano@gmail.com, Braga, Vitor Lucas Lopes2 (AUTHOR) vitorlucas.vlb@gmail.com, Ribeiro, Erlane Marques2,3 (AUTHOR) erlaneribeiro@yahoo.com.br, Guimarães, Ingred Pimentel1 (AUTHOR) ingredpguimaraes@gmail.com, Pereira, Késia Sindy Alves Ferreira1 (AUTHOR) kesiasindy@gmail.com, Nóbrega, Paulo Ribeiro3,4 (AUTHOR), Pessoa, André Luiz Santos1,2 (AUTHOR) andrepessoa10@yahoo.com.br |
| Source: |
Brain Sciences (2076-3425). Aug2023, Vol. 13 Issue 8, p1184. 7p. |
| Subject Terms: |
*NEMALINE myopathy, *MALIGNANT hyperthermia, *MUSCLE diseases, *MISSENSE mutation, *SHORT stature, *CLEFT palate, *NATIVE Americans |
| Geographic Terms: |
BRAZIL |
| Abstract: |
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. [ABSTRACT FROM AUTHOR] |
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