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Updated: Sep 17, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
Published on: August 8, 2022
Reply to Before scoliosis can be attributed to the variant c.326G>A in MYH3, its pathogenicity must be proven
Maria Chiara Maccarone1, Matilde Paramento2, Edoardo Passarotto3
1Department of Neurosciences, Section of Rehabilitation, University of Padova, Italy; Padova Neuroscience Center, University of Padova.
Abstract:
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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