Reply to <i>Before scoliosis can be attributed to the variant c.326G>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 th...
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| Format: | Article |
| Language: | English |
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PAGEPress Publications
2025-06-01
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| Series: | European Journal of Translational Myology |
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| Online Access: | https://www.pagepressjournals.org/bam/article/view/14034 |
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| author | Maria Chiara Maccarone Matilde Paramento Edoardo Passarotto Paola Contessa Maria Rubega Emanuela Formaggio Stefano Masiero |
| author_facet | Maria Chiara Maccarone Matilde Paramento Edoardo Passarotto Paola Contessa Maria Rubega Emanuela Formaggio Stefano Masiero |
| author_sort | Maria Chiara Maccarone |
| collection | DOAJ |
| description | 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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| format | Article |
| id | doaj-art-00cde7fff5f4433db2f6873dcedd20d5 |
| institution | Matheson Library |
| issn | 2037-7452 2037-7460 |
| language | English |
| publishDate | 2025-06-01 |
| publisher | PAGEPress Publications |
| record_format | Article |
| series | European Journal of Translational Myology |
| spelling | doaj-art-00cde7fff5f4433db2f6873dcedd20d52025-06-27T13:20:58ZengPAGEPress PublicationsEuropean Journal of Translational Myology2037-74522037-74602025-06-0110.4081/ejtm.2025.14034Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i>Maria Chiara Maccarone0Matilde Paramento1Edoardo Passarotto2Paola Contessa3Maria Rubega4Emanuela Formaggio5Stefano Masiero6Department of Neurosciences, Section of Rehabilitation, University of Padova, Italy; Padova Neuroscience Center, University of PadovaDepartment of Neurosciences, Section of Rehabilitation, University of Padova, Italy; Department of Information Engineering, University of PadovaDepartment of Neurosciences, Section of Rehabilitation, University of PadovaOrthopedic Rehabilitation Unit, Padova University Hospital, PadovaDepartment of Neurosciences, Section of Rehabilitation, University of PadovaDepartment of Neurosciences, Section of Rehabilitation, University of PadovaDepartment of Neurosciences, Section of Rehabilitation, University of Padova, Italy; Orthopedic Rehabilitation Unit, Padova University Hospital, PadovaDear 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. [...] https://www.pagepressjournals.org/bam/article/view/14034MYH3scoliosisgenetic testingFreeman-Sheldon syndromeSheldon Hall syndrome |
| spellingShingle | Maria Chiara Maccarone Matilde Paramento Edoardo Passarotto Paola Contessa Maria Rubega Emanuela Formaggio Stefano Masiero Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i> European Journal of Translational Myology MYH3 scoliosis genetic testing Freeman-Sheldon syndrome Sheldon Hall syndrome |
| title | Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i> |
| title_full | Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i> |
| title_fullStr | Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i> |
| title_full_unstemmed | Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i> |
| title_short | Reply to <i>Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven</i> |
| title_sort | reply to i before scoliosis can be attributed to the variant c 326g gt a in myh3 its pathogenicity must be proven i |
| topic | MYH3 scoliosis genetic testing Freeman-Sheldon syndrome Sheldon Hall syndrome |
| url | https://www.pagepressjournals.org/bam/article/view/14034 |
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