Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

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...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Change in respiratory outcomes in adults with Duchenne muscular dystrophy in the era of corticosteroids.

Journal of neuromuscular diseases·2026
Same author

Real-world evidence on utilization and clinical outcomes of efgartigimod in patients with generalized myasthenia gravis.

Journal of neuroimmunology·2026
Same author

Cracking the Code: Genotype-Phenotype Correlation Models in Sarcoglycanopathies.

Annals of clinical and translational neurology·2026
Same author

Upper limb freezing, palilalia and tachyphemia in atypical Pantothenate kinase-associated neurodegeneration.

Parkinsonism & related disorders·2026
Same author

Burden of illness of Duchenne muscular dystrophy in Belgium: A retrospective, descriptive, cross-sectional study.

Journal of neuromuscular diseases·2026
Same author

Key Principles and Disease-Specific Considerations to Guide Management of Bone Health and Osteoporosis Among Individuals With Neuromuscular Disorders: The Path Forward.

Muscle & nerve·2026

Related Experiment Video

Updated: May 11, 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.

Kristl G Claeys1, Michel Fardeau

  • 1Department of Neurology and Institute for Neuropathology, University Hospital RWTH Aachen, Aachen, Germany.

Handbook of Clinical Neurology
|April 30, 2013
PubMed
Summary

Myofibrillar myopathies (MFMs) are rare genetic neuromuscular disorders. Understanding the genetic causes and clinical features of MFMs is crucial for diagnosis and management.

Area of Science:

  • Neuromuscular Disorders
  • Genetics
  • Molecular Biology

Background:

  • Myofibrillar myopathies (MFMs) are a heterogeneous group of inherited or sporadic neuromuscular diseases.
  • MFMs are characterized by myofibril dissolution starting at the Z-disk and accumulation of degradation products.
  • Mutations in six genes encoding sarcomeric Z-disk proteins are known to cause MFMs, accounting for about 50% of cases.

Purpose of the Study:

  • To review the clinical and genetic heterogeneity of myofibrillar myopathies.
  • To highlight the known genetic causes and their associated clinical manifestations.
  • To emphasize the importance of careful follow-up for cardiac and respiratory function in MFM patients.

Main Methods:

  • Review of existing literature on myofibrillar myopathies.

More Related Videos

Immunolabelling Myofiber Degeneration in Muscle Biopsies
06:37

Immunolabelling Myofiber Degeneration in Muscle Biopsies

Published on: December 5, 2019

Related Experiment Videos

Last Updated: May 11, 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

  • Analysis of clinical presentations and genetic findings in MFM patients.
  • Comparison of diagnostic features, including optical microscopy and immunohistochemistry.

    • Main Results:

    • Six genes (desmin, αB-crystallin, myotilin, ZASP, filamin C, Bag3) are identified as causative for MFMs.
    • Clinical heterogeneity includes adult-onset slow progression and infantile/juvenile onset with severe cardiac/respiratory involvement (e.g., Bag3opathies).
    • Cardiac involvement is common in desminopathies; respiratory symptoms in childhood occur in αB-crystallinopathies.

    Conclusions:

    • MFMs exhibit significant clinical and genetic diversity.
    • While optical microscopy and immunohistochemistry show similarities, ultrastructural findings aid in subtype differentiation.
    • Currently, no cure exists, necessitating diligent monitoring of cardiac and respiratory functions.