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Further delineation of SMG9-related heart and brain malformation syndrome

Norah Altuwaijri1, Mona Abdelbaky2, Amal Alhashem2,3

  • 1Department of Translational Genomics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

American Journal of Medical Genetics. Part A
|February 20, 2021
PubMed
Abstract

No abstract available in PubMed .

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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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