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Related Concept Videos

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...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...
Muscle Contraction01:10

Muscle Contraction

In skeletal muscles, acetylcholine is released by nerve terminals at the motor endplate—the point of synaptic communication between motor neurons and muscle fibers. The binding of acetylcholine to its receptors on the sarcolemma allows entry of sodium ions into the cell and triggers an action potential in the muscle cell. Thus, electrical signals from the brain are transmitted to the muscle. Subsequently, the enzyme acetylcholinesterase breaks down acetylcholine to prevent excessive muscle...
Muscle Contraction01:15

Muscle Contraction

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...
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: May 22, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Myotonia associated with caveolin-3 mutation.

Margherita Milone1, Kathleen M McEvoy, Eric J Sorenson

  • 1Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA. milone.margherita@mayo.edu

Muscle & Nerve
|May 15, 2012
PubMed
Summary
This summary is machine-generated.

Mutations in the caveolin-3 gene (CAV3) can cause muscle disorders. The specific CAV3 mutation p.V57M is linked to electrical myotonia, a condition causing muscle hyperexcitability.

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Published on: January 7, 2019

Area of Science:

  • Muscle biology and genetics
  • Neuromuscular disorders

Background:

  • Caveolin-3 (CAV3) is crucial for skeletal and cardiac muscle caveolae.
  • CAV3 gene mutations are associated with various muscle diseases like muscular dystrophy and myopathy.

Observation:

  • A patient presented with myalgia, stiffness, and fatigue.
  • He exhibited normal muscle strength but had myotonic discharges and epilepsy.
  • Genetic analysis revealed a heterozygous CAV3 mutation, p.V57M.

Findings:

  • The p.V57M mutation in CAV3, previously linked to hyperCKemia, is associated with electrical myotonia.
  • This finding expands the clinical spectrum of CAV3-related muscle disorders.

Implications:

  • Highlights the role of CAV3 in muscle excitability.
  • Suggests genetic testing for CAV3 in patients with unexplained myotonia and muscle symptoms.
  • Informs diagnosis and management of rare neuromuscular conditions.