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 Experiment Videos

The earliest pathologic alterations in dysferlinopathy.

D Selcen1, G Stilling, A G Engel

  • 1Department of Neurology and Neuromuscular Research Laboratory, Mayo Clinic, Rochester, MN 55905, USA.

Neurology
|June 13, 2001
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment.

The Lancet. Neurology·2015
Same author

Marked phenotypic variability in two siblings with congenital myasthenic syndrome due to mutations in MUSK.

Journal of neurology·2013
Same author

Phenotypic heterogeneity in a large Thai slow-channel congenital myasthenic syndrome kinship: Correction.

Neuromuscular disorders : NMD·2012
Same author

Anti-MuSK autoantibodies block binding of collagen Q to MuSK.

Neurology·2011
Same author

Myasthenic syndrome caused by plectinopathy.

Neurology·2011
Same author

Identification and consequences of galectin-3 expression in pituitary tumors.

Molecular and cellular endocrinology·2010
Same journal

Teaching Video NeuroImage: Tardive Blepharoclonus.

Neurology·2026
Same journal

Teaching NeuroImage: Latent Axonal Degeneration in Patient With Anterior Circulation Stroke.

Neurology·2026
Same journal

Incidental DWI-Positive Lesions in 2 Cohorts of CAA and CADASIL: Prevalence, Distribution, and Associations With Clinical Variables.

Neurology·2026
Same journal

Alpha-Synuclein Seed Amplification Assay in CSF, Skin, and Submandibular Gland From Incidental Lewy Body Disease and Parkinson Disease.

Neurology·2026
Same journal

Digital Semiology.

Neurology·2026
Same journal

Early Cerebral Edema Subtypes and Functional Outcome in Patients With Cerebral Venous Thrombosis: Insights From the CLOT-VENUS Registry.

Neurology·2026
See all related articles

Dysferlin deficiency causes muscle fiber membrane defects, indicating its crucial role in maintaining muscle integrity. Early plasma membrane injury is a key factor in dysferlinopathy development.

Area of Science:

  • Muscle biology
  • Cellular pathology
  • Genetic disorders

Background:

  • Dysferlinopathies manifest as muscular dystrophy, affecting muscle fiber integrity.
  • The precise function of dysferlin and its role in muscle injury remain unclear.
  • This study investigates early cellular abnormalities in dysferlin-deficient muscle fibers.

Purpose of the Study:

  • To identify early pathological changes in non-necrotic muscle fibers in dysferlinopathy.
  • To elucidate the role of dysferlin in maintaining muscle fiber plasma membrane integrity.
  • To investigate the involvement of the membrane attack complex (MAC) in dysferlinopathy pathogenesis.

Main Methods:

  • Immunoblot analysis to assess protein levels.
  • Membrane attack complex (MAC) immunolocalization on muscle fibers.

Related Experiment Videos

  • Quantitative electron microscopy of muscle fiber ultrastructure.

    • Main Results:

    • Patients with dysferlinopathy showed evidence of plasma membrane defects, including small lesions and vesicular replacement.
    • Abnormalities such as thickened basal lamina and papillary projections were observed in affected muscle fibers.
    • Membrane attack complex (MAC) was present on muscle fibers in some patients, but not all.

    Conclusions:

    • Dysferlin is essential for maintaining the structural integrity of the muscle fiber plasma membrane.
    • Plasma membrane injury is an early pathological event in dysferlinopathies.
    • MAC activation may be a secondary event rather than a primary cause of muscle fiber injury.