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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...
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...
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...
The Sarcomere01:08

The Sarcomere

A sarcomere is a microscopic segment repeating in a myofibril. The sarcomere fundamentally consists of two main myofilaments: thick filaments called myosin and thin filaments called actin. These filaments interact by sliding past each other in response to stimulus. In addition to myosin and actin, several other proteins, such as tropomyosin, troponin, titin, nebulin, myomesin, α-actinin, and dystrophin, play crucial roles in regulating, structuring, and functioning of the sarcomere.
Each myosin...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

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.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
Microscopic Anatomy of Skeletal Muscles01:13

Microscopic Anatomy of Skeletal Muscles

Skeletal muscle cells, also called muscle fibers, are distinctly elongated, multi-nucleated, slender biological units. They are packed with specialized structures designed to facilitate their primary function, which is contraction.
The muscle sarcolemma is a plasma membrane enclosing each muscle cell that conducts electrical signals called action potentials. The sarcolemma extends into the cell to form T-tubules, ensuring the neural impulses are uniformly distributed across the entire muscle...

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Related Experiment Video

Updated: Jun 10, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Myofibrillar myopathies.

Duygu Selcen1

  • 1Department of Neurology, Division of Child Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic College of Medicine, Mayo Clinic, Rochester, Minnesota 55905, USA. Selcen.duygu@mayo.edu

Current Opinion in Neurology
|July 29, 2010
PubMed
Summary
This summary is machine-generated.

Recent advances in myofibrillar myopathies (MFMs) include identifying mutations in Bag3 (Bcl-2-associated athanogene-3) as a cause. This can lead to a more severe and rapidly progressive MFM phenotype than typically observed.

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Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Related Experiment Videos

Last Updated: Jun 10, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Area of Science:

  • Muscle Diseases
  • Genetics
  • Molecular Biology

Background:

  • Myofibrillar myopathies (MFMs) are a group of inherited muscle disorders.
  • They are characterized by the structural disorganization of myofibrils, the basic contractile units of muscle cells.

Purpose of the Study:

  • To provide a comprehensive and current overview of myofibrillar myopathies.
  • To highlight recent genetic discoveries and their clinical implications.

Main Methods:

  • Review of recent scientific literature on myofibrillar myopathies.
  • Analysis of identified genetic mutations and their associated protein interactions.

Main Results:

  • Identification of mutations in Bag3 (Bcl-2-associated athanogene-3) as a novel cause of MFM.
  • Patients with Bag3-related MFM may exhibit a more severe and rapidly progressing clinical course compared to typical MFMs.

Conclusions:

  • Multiple MFM disease genes have been recently identified, including Bag3.
  • The identified proteins (desmin, alphaB-crystallin, myotilin, Zasp, filamin C, Bag3) are involved in Z-disk structure and function.
  • Molecular defects in these genes result in a consistent pattern of muscle fiber structural damage.