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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
Musculoskeletal disorders involve injuries and conditions affecting the skeletal muscles and associated connective tissues. These disorders can arise from acute biomechanical stresses or chronic overuse and can occur across different age groups. Common injuries include sprains, fractures, and muscular strains, often resulting from...
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Satellite Stem Cells and Muscular Dystrophy01:21

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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...
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Myasthenia Gravis: Overview and Treatment01:20

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Myasthenia gravis is a neuromuscular transmission disorder characterized by weakness and increased fatigability of skeletal muscles. It is an autoimmune disease affecting approximately one in 2000 people, where antibodies against the α1 subunit of nicotinic acetylcholine receptors are produced.
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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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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Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
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Formation of Muscle Fibers from Myoblasts01:13

Formation of Muscle Fibers from Myoblasts

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De novo myogenesis, or the formation of muscle fibers, begins during the early embryonic stages. The skeletal muscle is formed from somites– blocks of embryonic cell layers. The somites are further divided into dermatomes, myotomes, sclerotomes, and syndetomes. Among these, the myotomes give rise to muscle fibers.
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Related Experiment Video

Updated: Nov 5, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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New developments in myotonic dystrophies from a multisystemic perspective.

Federica Montagnese1, Benedikt Schoser

  • 1Friedrich-Baur-Institute, Department of Neurology, Ludwig-Maximilians-University, Munich, Germany.

Current Opinion in Neurology
|May 14, 2021
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Summary

Myotonic dystrophies (DMs) involve multiple systems, complicating patient care. This review highlights extra-muscular symptoms and recent findings to guide neurologists and encourage research.

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Area of Science:

  • Neurology
  • Genetics
  • Internal Medicine

Background:

  • Myotonic dystrophies (DMs) are multisystemic genetic disorders.
  • Extra-muscular manifestations significantly impact patient morbidity and mortality.
  • Current management and trial designs are complicated by the broad range of symptoms.

Purpose of the Study:

  • To provide an update on the multifaceted comorbidities observed in DM1 and DM2.
  • To assist neurologists in the complex management of patients with DMs.
  • To encourage further research into under-investigated aspects of DM comorbidities.

Main Methods:

  • Comprehensive review of recent literature on DM1 and DM2.
  • Focus on pathogenesis and clinical aspects of extra-muscular involvement.
  • Analysis of evidence regarding cardiac, respiratory, gastrointestinal, and metabolic features.

Main Results:

  • Cardiac and respiratory features are well-documented, with expert recommendations available.
  • Gastrointestinal symptoms are highly prevalent in DMs.
  • Alterations in insulin signaling pathways are relevant, with emerging evidence for metformin efficacy in DM1.
  • Limited data exists for DM2, necessitating caution in translating DM1 findings.

Conclusions:

  • Extra-muscular manifestations are a major contributor to the disease burden in DMs.
  • A multidisciplinary approach is essential for optimal patient management.
  • While consensus recommendations exist, further evidence is required to refine care, particularly for DM2.