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Related Concept Videos

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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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...
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...
Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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...
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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.
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Related Experiment Video

Updated: May 11, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

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Published on: July 29, 2016

Congenital myopathies.

Norma Beatriz Romero1, Nigel F Clarke

  • 1Morphology Neuromuscular Unit of the Myology Institute, GHU Pitié-Salpêtrière, Paris, France.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary
This summary is machine-generated.

Congenital myopathies are inherited muscle disorders diagnosed by muscle biopsy. Advances in genetic identification are ongoing, but significant heterogeneity complicates classification.

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Last Updated: May 11, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Published on: July 29, 2016

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
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Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Congenital myopathies are a diverse group of inherited muscle disorders.
  • Characterized by specific histopathological features like cores or rods on muscle biopsy.
  • Common clinical features include early onset, hypotonia, and delayed motor development.

Purpose of the Study:

  • To summarize the current understanding of congenital myopathies.
  • To highlight the diagnostic challenges and evolving classification.
  • To underscore the impact of genetic discoveries.

Main Methods:

  • Review of histopathological findings (enzyme-histochemistry, electron microscopy).
  • Analysis of clinical presentations.
  • Integration of genetic data for classification.

Main Results:

  • Diagnosis relies on specific muscle biopsy abnormalities.
  • Significant genetic heterogeneity exists within congenital myopathy subtypes.
  • Mutations in a single gene can lead to varied phenotypes.

Conclusions:

  • The nosography and nosology of congenital myopathies are continually evolving.
  • Understanding genetic basis is crucial but complex.
  • Multifaceted approach combining clinical, pathological, and genetic data is essential.