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Satellite Stem Cells and Muscular Dystrophy

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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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As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
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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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Disorders of the Skeletal Muscle01:28

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The clinical conditions affecting the skeletal muscle tissue are broadly categorized as musculoskeletal and neuromuscular disorders.
Musculoskeletal disorders
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Nine muscles are involved in arm movements. Two of these, the pectoralis major and latissimus dorsi, originate from the axial skeleton and are called axial muscles. The other seven originate from the scapula and are called the scapular muscles.
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Related Experiment Video

Updated: Aug 16, 2025

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
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Facioscapulohumeral Muscular Dystrophy.

Karlien Mul

    Continuum (Minneapolis, Minn.)
    |December 20, 2022
    PubMed
    Summary

    Facioscapulohumeral muscular dystrophy (FSHD) involves muscle weakness due to DUX4 gene misexpression. Current supportive care is evolving towards targeted therapies like gene therapy and RNA interference for FSHD treatment.

    Area of Science:

    • Neurology
    • Genetics
    • Molecular Biology

    Background:

    • Facioscapulohumeral muscular dystrophy (FSHD) presents with variable severity, typically affecting facial, shoulder, and upper limb muscles.
    • The disease stems from epigenetic deregulation leading to the misexpression of the DUX4 gene, a common downstream pathway for known genetic causes.
    • Current management relies on supportive care and evidence-based guidelines.

    Conclusions:

    • Diagnosis relies on clinical assessment and genetic testing.
    • Understanding FSHD's molecular pathogenesis is driving the shift towards targeted therapeutic strategies.
    • The field is moving towards innovative treatments beyond supportive care for FSHD.

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