Letters to the Editor
Vol. 35 No. 3 (2025)
Reply to Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven
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All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.
Published: 27 June 2025
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Authors
Dear Editor,
We appreciate the valuable comments regarding our recent case report on a 15-year-old girl presenting with scoliosis, growth retardation, facial dysmorphism, and delayed puberty, who was found to carry the heterozygous NM_002470.4(MYH3):c.326G>A (p.Arg109His) variant.1 We welcome the opportunity to address the concerns raised and to further clarify aspects of our study, as constructive scientific dialogue is important for refining our understanding of the pathophysiology of scoliosis. [...]
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Citations
Maccarone MC, Paramento M, Passarotto E, et al. A neurophysiological and genetic assessment of a case of rapidly progressive scoliosis. Eur J Transl Myol 2024 Dec 19. doi: 10.4081/ejtm.2024.13249. DOI: https://doi.org/10.4081/ejtm.2024.13249
Yang Y, Zhang W, Wang H. Identification of two novel MYH3 variants causing different phenotypes in prenatal diagnosis. Prenat Diagn 2023;43:1467-71. DOI: https://doi.org/10.1002/pd.6440
Zhao S, Zhang Y, Hallgrimsdottir S, et al. Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders. NPJ Genom Med 2022;7:1. DOI: https://doi.org/10.1038/s41525-021-00273-x
Maccarone MC, Barzizza E, Contessa P, et al. Lessons from the pandemic era: do we need new strategies to improve conservative treatment adherence in adolescent idiopathic scoliosis? A retrospective analysis. Eur J Transl Myol 2024;34:12859. DOI: https://doi.org/10.4081/ejtm.2024.12859
Paramento M, Rubega M, Di Marco R, et al. Experimental protocol to investigate cortical, muscular and body representation alterations in adolescents with idiopathic scoliosis. PLoS One 2023;18:e0292864. DOI: https://doi.org/10.1371/journal.pone.0292864
Paramento M, Passarotto E, Maccarone MC, et al. Neurophysiological, balance and motion evidence in adolescent idiopathic scoliosis: A systematic review. PLoS One 2024;19:e0303086. DOI: https://doi.org/10.1371/journal.pone.0303086
How to Cite
Reply to Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven. (2025). European Journal of Translational Myology, 35(3). https://doi.org/10.4081/ejtm.2025.14034
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