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Related Concept Videos

Myasthenia Gravis ll: Pathophysiology01:22

Myasthenia Gravis ll: Pathophysiology

The disease process of myasthenia gravis begins at the neuromuscular junction, where antibodies attack key proteins needed for muscle activation. This immune reaction weakens signal transmission, leading to the characteristic muscle fatigue and weakness that define the condition.Immune-Mediated DamageIn most individuals, antibodies target acetylcholine receptors (AChRs) on the postsynaptic membrane of muscle cells. By blocking acetylcholine binding, these antibodies prevent the nerve signal...
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...
Alterations in Muscle Tone lll01:11

Alterations in Muscle Tone lll

Rigidity and myotonia are distinct abnormalities of muscle tone that affect resistance and relaxation during movement. Although both involve altered muscle contraction, they arise from different neurological and muscular mechanisms.CharacteristicsRigidity is characterized by uniform resistance to passive movement across the entire range, independent of speed, affecting flexors and extensors equally. It may appear as lead-pipe rigidity (smooth, constant resistance) or cogwheel rigidity...
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

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.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Formation of Muscle Fibers from Myoblasts01:13

Formation of Muscle Fibers from Myoblasts

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.
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription factors...
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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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Related Experiment Video

Updated: Jun 17, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

[Pathogenesis of myotonic dystrophy type 1].

Jonathan J Magaña1, Norberto Leyva-García, Bulmaro Cisneros

  • 1Departamento de Genética, Instituto Nacional de Rehabilitación, México DF, México.

Gaceta Medica De Mexico
|January 16, 2010
PubMed
Summary

Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG repeat expansion in the DMPK gene. Mutant transcripts form nuclear foci, disrupting gene expression and causing multisystemic symptoms.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Context:

  • Myotonic dystrophy type 1 (DM1) is the most prevalent adult muscular dystrophy.
  • It presents as a dominant disorder with multisystemic manifestations, including skeletal muscle, cardiac, nervous, and endocrine systems.
  • DM1 arises from expanded CTG trinucleotide repeats in the 3'-untranslated region of the DMPK gene.

Purpose:

  • To review the scientific findings elucidating the molecular underpinnings of DM1 in muscle and nervous systems.
  • To discuss current understanding of DM1 pathogenesis.
  • To explore advancements in gene therapy for DM1.

Summary:

  • DM1 is caused by CTG repeat expansions (approx. 50-4000 repeats) in the DMPK gene, compared to normal ranges (5-37 repeats).

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Immunolabelling Myofiber Degeneration in Muscle Biopsies

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Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
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Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

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Last Updated: Jun 17, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Immunolabelling Myofiber Degeneration in Muscle Biopsies
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Immunolabelling Myofiber Degeneration in Muscle Biopsies

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Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies
14:10

Isometric and Eccentric Force Generation Assessment of Skeletal Muscles Isolated from Murine Models of Muscular Dystrophies

Published on: January 31, 2013

  • Mutant DM1 transcripts accumulate in the nucleus, forming foci that sequester proteins like splicing regulators and transcription factors.
  • This sequestration disrupts gene expression, affecting cellular differentiation and leading to DM1's diverse symptoms.

    • Impact:

    • Provides a comprehensive overview of DM1 molecular pathology.
    • Highlights the mechanism of nuclear foci formation and its downstream effects on gene expression.
    • Discusses the potential of gene therapy as a future treatment strategy for DM1.