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

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Desmosomes01:05

Desmosomes

The term desmosome derives from the Greek words "desmo" and "soma" meaning "adhesion bodies." This structure was first observed during the late 1800s and described as small, dense nodules in the epidermis. Desmosomes are button-like structures that help form an interlinked network of intermediate filaments across the cells. These junctions are  essential to hold cells together under mechanical stress and to maintain tissue integrity. Desmosomes are multi-protein complexes comprising desmosomal...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...
Amyloid Fibrils03:03

Amyloid Fibrils

Amyloid fibrils are aggregates of misfolded proteins.  Under most circumstances, misfolded proteins are either refolded by chaperone proteins or degraded by the proteasome. However, in the case of a mutation or a disease, these proteins can accumulate to form large clusters and often further assemble to form elongated fibers, called fibrils. 
Amyloid deposits were observed as early as 1639 in the liver and the spleen.   In 1854, Rudolph Virchow performed iodine staining, normally used to...

You might also read

Related Articles

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

Sort by
Same author

2025 update of the National French consensus on gene lists for the diagnosis of muscle diseases using high-throughput sequencing.

Journal of neuromuscular diseases·2026
Same author

Autosomal Dominant Missense <i>DAG1</i> Variant Linked to Mild-Moderate LGMD R16.

Human mutation·2026
Same author

Phenotype-specific muscle proteomic profiling in titinopathies.

Acta neuropathologica communications·2026
Same author

Severe dilated cardiomyopathy in females with dystrophinopathy : a case series of nine patients.

Neuromuscular disorders : NMD·2026
Same author

Exploring the impact of myotonia on daily functioning in myotonic dystrophy: a patient-reported survey.

BMC neurology·2026
Same author

Determinants of diaphragm ultrasound and its diagnostic performance for predicting respiratory status in myotonic dystrophy type 1.

Respiratory medicine and research·2026

Related Experiment Video

Updated: Jun 28, 2026

Cell Membrane Repair Assay Using a Two-photon Laser Microscope
06:35

Cell Membrane Repair Assay Using a Two-photon Laser Microscope

Published on: January 2, 2018

Dysferlinopathies.

J Andoni Urtizberea1, Guillaume Bassez, France Leturcq

  • 1Assistance Publique Hopitaux de Paris, Hopital Marin, BP40139, 64700 Hendaye, France. andoni.urtizberea@hnd.aphp.fr

Neurology India
|November 1, 2008
PubMed
Summary

Dysferlinopathies are rare genetic neuromuscular disorders affecting skeletal muscle due to absent dysferlin. Research is uncovering new variants and potential therapeutic targets for these progressive muscular dystrophies.

More Related Videos

DNA Electroporation, Isolation and Imaging of Myofibers
07:52

DNA Electroporation, Isolation and Imaging of Myofibers

Published on: December 23, 2015

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

Related Experiment Videos

Last Updated: Jun 28, 2026

Cell Membrane Repair Assay Using a Two-photon Laser Microscope
06:35

Cell Membrane Repair Assay Using a Two-photon Laser Microscope

Published on: January 2, 2018

DNA Electroporation, Isolation and Imaging of Myofibers
07:52

DNA Electroporation, Isolation and Imaging of Myofibers

Published on: December 23, 2015

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

Area of Science:

  • Neuromuscular Disorders
  • Genetics
  • Biochemistry

Background:

  • Dysferlinopathies are a group of inherited neuromuscular diseases.
  • Characterized by the absence of functional dysferlin protein in skeletal muscle.
  • Exhibit an autosomal recessive inheritance pattern.

Purpose of the Study:

  • To summarize the spectrum of dysferlinopathies.
  • To highlight the prevalence and geographical distribution.
  • To discuss the role of dysferlin in cellular function and potential therapeutic avenues.

Main Methods:

  • Literature review of clinical and genetic studies on dysferlinopathies.
  • Analysis of reported phenotypes including Miyoshi myopathy (MM), limb girdle muscular dystrophy type 2B (LGMD 2B), and distal myopathy with anterior tibial onset (DMAT).
  • Review of dysferlin protein function in membrane repair and vesicle trafficking.

Main Results:

  • Dysferlinopathies present with diverse clinical phenotypes beyond the classical MM, LGMD 2B, and DMAT.
  • These disorders are more prevalent in specific populations, such as the Middle East and Indian subcontinent.
  • Dysferlin's role in membrane repair suggests potential therapeutic strategies targeting this pathway.

Conclusions:

  • Dysferlinopathies represent a significant portion of progressive recessive muscular dystrophies in certain regions.
  • Understanding dysferlin's function is crucial for developing novel treatments.
  • Further research into dysferlin pathophysiology may lead to innovative therapeutic interventions.