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Related Concept Videos

Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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...
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Cardiomyopathy IV: Restrictive Cardiomyopathy01:29

Cardiomyopathy IV: Restrictive Cardiomyopathy

Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...

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A Doxorubicin-Induced Murine Model of Dilated Cardiomyopathy In Vivo
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Published on: May 16, 2020

Desmin-related myopathy.

K Y van Spaendonck-Zwarts1, L van Hessem, J D H Jongbloed

  • 1Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands. k.y.spaendonck@medgen.umcg.nl

Clinical Genetics
|August 20, 2010
PubMed
Summary
This summary is machine-generated.

Desmin-related myopathy (DRM) affects skeletal and cardiac muscles due to desmin gene mutations. This meta-analysis reveals frequent neurological and cardiac symptoms in carriers, impacting disease presentation and outcomes.

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Last Updated: Jun 10, 2026

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

Area of Science:

  • Genetics
  • Neurology
  • Cardiology

Background:

  • Desmin-related myopathy (DRM) is an inherited disorder affecting skeletal and cardiac muscles.
  • It is primarily caused by dominant mutations in the desmin gene (DES).

Purpose of the Study:

  • To conduct a literature review on DRM, covering clinical, genetic, and management aspects.
  • To perform a meta-analysis of DES mutation carriers to understand clinical characteristics and genotype-phenotype correlations.

Main Methods:

  • Literature review of desmin-related myopathy.
  • Meta-analysis of 159 DES mutation carriers with 40 distinct mutations.

Main Results:

  • 74% of carriers showed neurological signs, and 74% showed cardiological signs.
  • Over 70% exhibited myopathy or weakness; 50% had cardiomyopathy; 60% had cardiac conduction disease/arrhythmias.
  • Symptoms began in the 30s, with a quarter dying by age 49; mutations in the 2B domain correlated with neurological phenotypes, while head/tail domain mutations correlated with cardiac phenotypes.

Conclusions:

  • DES mutations lead to a spectrum of neurological and cardiac manifestations in desmin-related myopathy.
  • Genotype-phenotype correlations suggest specific mutation locations influence the clinical presentation.
  • Understanding these correlations is crucial for managing DRM patients.