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

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...
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...
The Neuromuscular Junction01:19

The Neuromuscular Junction

The nervous system consists of complex motor neuron circuits, including upper motor neurons originating from the cerebral cortex and lower motor neurons starting in the spinal cord, coordinating both voluntary and involuntary movements. Among these, somatic motor neurons activate skeletal muscles and are classified into alpha, beta, and gamma types. Alpha neurons are vital for voluntary movement coordination, while gamma neurons adjust muscle spindle sensitivity, and the function of beta...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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...
Myasthenia Gravis: Overview and Treatment01:20

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.
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...

You might also read

Related Articles

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

Sort by
Same author

Reducing Body Myopathy in Female Patients With <i>FHL1</i> Variants Showing Rapid and Severe Evolution Mimicking Inflammatory Myopathy: A Case Series.

Neurology. Genetics·2026
Same author

Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.

Journal of neuromuscular diseases·2025
Same author

Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy.

Neurology. Genetics·2025
Same author

Disease Trajectories of a Large French Cohort of 142 Congenital Myopathy Patients in Adult Age.

European journal of neurology·2025
Same author

SH3KBP1 promotes skeletal myofiber formation and functionality through ER/SR architecture integrity.

EMBO reports·2025
Same author

Glycogenosis type XI, a rare association between muscle and skin manifestations - the contribution of proteomics for the understanding of the underlying myopathology.

Journal of neuromuscular diseases·2025

Related Experiment Video

Updated: Jun 15, 2026

Development of Knock-Out Muscle Cell Lines using Lentivirus-Mediated CRISPR/Cas9 Gene Editing
10:12

Development of Knock-Out Muscle Cell Lines using Lentivirus-Mediated CRISPR/Cas9 Gene Editing

Published on: June 16, 2022

Centronuclear myopathies: a widening concept.

Norma Beatriz Romero1

  • 1INSERM UMR S974, UPMC Université Pierre et Marie Curie-Paris6, CNRS, UMR7215, Institut de Myologie, IFR14, AP-HP, Groupe Hospitalier-Universitaire Pitié-Salpêtrière, Centre de référence des maladies neuromusculaires Paris-Est, Paris F-75013, France. nb.romero@institut-myologie.org

Neuromuscular Disorders : NMD
|February 26, 2010
PubMed
Summary
This summary is machine-generated.

Centronuclear myopathies (CNM) are genetic muscle disorders characterized by abnormal central nuclei in muscle fibers. Distinguishing between nuclear centralization and internalization, alongside other structural changes, aids in diagnosing specific genetic forms like MTM1, DNM2, and BIN1-related CNM.

More Related Videos

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Related Experiment Videos

Last Updated: Jun 15, 2026

Development of Knock-Out Muscle Cell Lines using Lentivirus-Mediated CRISPR/Cas9 Gene Editing
10:12

Development of Knock-Out Muscle Cell Lines using Lentivirus-Mediated CRISPR/Cas9 Gene Editing

Published on: June 16, 2022

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Area of Science:

  • Neurology
  • Genetics
  • Pathology

Background:

  • Centronuclear myopathies (CNM) are congenital muscle disorders defined by central nuclei in muscle fibers.
  • Key genetic causes include MTM1 (X-linked), DNM2 (autosomal dominant), and BIN1 (autosomal recessive).
  • A significant number of CNM cases remain genetically unresolved despite established histopathological distinctions.

Purpose of the Study:

  • To review histopathological abnormalities associated with specific CNM gene mutations.
  • To emphasize the importance of differentiating nuclear centralization from nuclear internalization for CNM classification.
  • To demonstrate how additional muscle fiber structural alterations can aid in diagnosing specific genetic forms of CNM.

Main Methods:

  • Review of literature on Centronuclear Myopathies.
  • Analysis of histopathological features correlated with genetic mutations (MTM1, DNM2, BIN1).
  • Emphasis on distinguishing nuclear centralization and internalization patterns.

Main Results:

  • Specific gene mutations (MTM1, DNM2, BIN1) are linked to distinct histopathological findings in CNM.
  • Distinguishing nuclear centralization from internalization is crucial for accurate CNM categorization.
  • Additional structural alterations within muscle fibers serve as valuable diagnostic clues.

Conclusions:

  • Histopathological analysis, particularly the distinction between nuclear centralization and internalization, is vital for diagnosing CNM subtypes.
  • Identifying specific structural changes can help suggest or rule out MTM1, DNM2, or BIN1 gene mutations.
  • Further research is needed to resolve the genetic basis of remaining unexplained CNM cases.