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

[Sarcoglycanopathies].

J Colomer1

  • 1Unidad de Patología Neuromuscular, Servicio de Neurología, Hospital Sant Joan de Déu, Barcelona, España. jcolomero@meditex.es

Revista De Neurologia
|April 2, 1999
PubMed
Summary
This summary is machine-generated.

Limb-Girdle Muscular Dystrophy (LGMD) classification is based on sarcoglycan protein deficits, linking specific protein deficiencies to genetic subtypes. Understanding these relationships is crucial for diagnosing and studying muscular dystrophies.

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

What drives wild boar density and population growth in Mediterranean environments?

The Science of the total environment·2024
Same author

Scavenging of polystyrene microplastics by sediment particles in both turbulent and calm aquatic environments.

The Science of the total environment·2023
Same author

Salbutamol tolerability and efficacy in patients with spinal muscular atrophy type II.

Neuromuscular disorders : NMD·2019
Same author

Molecular characterization of congenital myasthenic syndromes in Spain.

Neuromuscular disorders : NMD·2017
Same author

Phenotypic heterogeneity in two large Roma families with a congenital myasthenic syndrome due to CHRNE 1267delG mutation. A long-term follow-up.

Neuromuscular disorders : NMD·2016
Same author

Long-term follow-up in patients with congenital myasthenic syndrome due to RAPSN mutations.

Neuromuscular disorders : NMD·2016
Same journal

The Correlation Between and Variability of Three Balance Scales in the Assessment of Balance Function in Patients With Ataxia.

Revista de neurologia·2026
Same journal

Surgical Treatment of an Aneurysm in the Subacute Stage of Hemorrhagic Moyamoya Disease: Aneurysm Resection Combined With STA-MCA Bypass: A Case Report.

Revista de neurologia·2026
Same journal

Mapping the Evidence: Central Sleep Apnea Syndromes During Sleep and Stroke-A Scoping Review.

Revista de neurologia·2026
Same journal

Developmental and Epileptic Encephalopathy Due to a Novel <i>ARHGEF9</i> Deletion Variant: Case Series of Two Siblings.

Revista de neurologia·2026
Same journal

P300 Event-Related Potentials as Cognitive Biomarkers in Neurological and Neuropsychiatric Disorders: A Systematic Review.

Revista de neurologia·2026
Same journal

[Effectiveness and Risk of Recurrence of Pulsed Radiofrequency in Trigeminal Neuralgia and Chronic Cluster Headache].

Revista de neurologia·2026
See all related articles

Area of Science:

  • Neurology
  • Genetics
  • Biochemistry

Context:

  • Muscular dystrophies are classified based on sarcoglycan complex protein deficits.
  • Specific protein deficits correlate with Limb-Girdle Muscular Dystrophy (LGMD) subtypes and genetic loci.
  • The Dystrophin Associated Glycoproteins (DAG) and Dystrophin Related Proteins (DRP) network is vital for understanding disease mechanisms.

Purpose:

  • To establish a new classification for muscular dystrophies based on sarcoglycan protein deficits.
  • To correlate specific protein deficiencies (alpha, beta, gamma, sigma) with LGMD types and genetic identification.
  • To highlight the importance of immunohistochemical studies in evaluating these conditions.

Summary:

  • Alpha-sarcoglycan deficiency (LGMD 2D) presents with clinical and genetic heterogeneity, sometimes mimicking Duchenne muscular dystrophy.

Related Experiment Videos

  • Gamma-sarcoglycan absence causes severe muscular dystrophies with a Duchenne phenotype, linked to specific mutations like delta 525T and C283Y.
  • Beta-sarcoglycan deficit (LGMD 2E) results in variable clinical severity and often cardiac involvement, while sigma-sarcoglycan deficit (LGMD 2F) phenotypes remain largely undescribed.

    • Impact:

    • Provides a framework for understanding the genetic basis of various LGMD subtypes.
    • Facilitates accurate diagnosis and genetic counseling for patients with muscular dystrophies.
    • Advances research into the molecular mechanisms underlying sarcoglycanopathies and related neuromuscular disorders.