Reply to <i>Before scoliosis can be attributed to the variant c.326G&gt;A in MYH3, its pathogenicity must be proven</i>
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. [...].
Authors
- Paola Contessa (ORCID: https://orcid.org/0000-0002-8645-6783)
- Edoardo Passarotto (ORCID: https://orcid.org/0000-0001-7653-9377)
- Emanuela Formaggio (ORCID: https://orcid.org/0000-0002-3417-0388)
- Maria Chiara Maccarone (ORCID: https://orcid.org/0000-0003-2793-1334)
- Stefano Masiero (ORCID: https://orcid.org/0000-0002-0361-4898)
- Matilde Paramento (ORCID: https://orcid.org/0000-0002-3268-0309)
- Maria Rubega (ORCID: https://orcid.org/0000-0002-0744-3109)
Institutions
- University of Padua (IT)
Publication Details
- Journal
- European Journal of Translational Myology
- Published
- 2025-06-27
- DOI
- https://doi.org/10.4081/ejtm.2025.14034
- Primary Topic
- Connective tissue disorders research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fondazione Cassa di Risparmio di Padova e Rovigo