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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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HMNR7 as a Neuromyopathy-A Novel VWA1 Variant With Minipolymyoclonus, Fasciculations, and Scapular Winging

Riya Sharma1, Siddharth Chand1, Sandeep Singh2

  • 1Department of Neurology, Postgraduate Institute of Medical Education and Research (PGIMER), Chandigarh, India.

Muscle & Nerve
|December 19, 2025
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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