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Genetics of hypertrophic cardiomyopathy (HCM) / Petros Syrris.

Henry Stewart Biomedical & Life Sciences Collection Available online

Henry Stewart Biomedical & Life Sciences Collection
Format:
Author/Creator:
Language:
English
Subjects (All):
Physical Description:
1 online resource (1 streaming video file (26 min.))
Other Title:
Genetics of hypertrophic cardiomyopathy
Place of Publication:
London : Henry Stewart Talks, 2024.
System Details:
video file
Contents:
  • Introduction
  • Cardiomyopathy
  • Microscopic anatomy of cardiomyocytes
  • Sarcomere
  • Key sarcomeric proteins
  • Sliding filament model of muscle contraction
  • Hypertrophic cardiomyopathy
  • Histology
  • Clinical findings
  • Major HCM causing genes
  • Cardiac myosin binding protein (MYBPC3)
  • β-myosin heavy chain (MYH7)
  • Rare HCM causing genes
  • Recently discovered HCM causing genes
  • HCM phenocopies
  • Disease mechanism in HCM
  • The energy depletion model
  • HCM causing genes: Candidate gene approach
  • Next generation sequencing in HCM
  • Whole Genome Sequencing (WGS) in HCM
  • Clinical validity of HCM genes
  • Genetic testing in HCM
  • HCM: A monogenic Mendelian disease?
  • Summary.
Notes:
  • Description based on publisher supplied metadata and other sources.
  • Retrieved August 22, 2025, from https://doi.org/10.69645/ZQTF1839.

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