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.

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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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Point and Frameshift Mutations01:30

Point and Frameshift Mutations

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Rous Sarcoma Virus (RSV) and Cancer

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