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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 2, 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, Andrew G Engel

  • 1Department of Neurology and Neuromuscular Disease Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA. Selcen.duygu@mayo.edu

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Myofibrillar myopathies (MFMs) are a group of muscle disorders diagnosed via muscle biopsy. While genetic causes are increasingly identified in Z-disk proteins, many MFM disease genes remain undiscovered.

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Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

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Last Updated: Jun 2, 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:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Myofibrillar myopathies (MFMs) are a heterogeneous group of inherited muscle disorders.
  • They share a common pathological hallmark: myofibrillar dissolution and Z-disk disintegration.
  • Associated features include progressive muscle weakness, cardiomyopathy, and peripheral neuropathy.

Purpose of the Study:

  • To review the current understanding of myofibrillar myopathies.
  • To highlight the diagnostic features and genetic underpinnings of MFMs.
  • To emphasize the ongoing search for novel MFM-associated genes.

Main Methods:

  • Diagnosis relies on characteristic muscle biopsy findings.
  • Clinical presentation and associated symptoms are documented.
  • Genetic analysis focuses on Z-disk-associated proteins.

Main Results:

  • MFMs exhibit Z-disk abnormalities and ectopic protein expression (e.g., desmin, αB-crystallin).
  • Clinical phenotypes vary, with distal weakness, limb-girdle, or scapuloperoneal patterns.
  • Mutations in known Z-disk proteins (desmin, αB-crystallin, myotilin, ZASP, filamin C, Bag3) are identified, but the genetic cause remains unknown in many cases.

Conclusions:

  • Myofibrillar myopathies present a spectrum of clinical and pathological features.
  • While several causative genes have been identified, a significant portion of MFMs remain genetically unresolved.
  • Further research is crucial to discover novel genes underlying MFMs and improve diagnosis and treatment.