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

Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

Satellite stem cells or myosatellite cells are quiescent stem cells that Alexander Mauro first identified in 1961. These cells are located between the sarcolemma, the plasma membrane of muscle fibers, and the basal lamina, the connective tissue sheath covering it. These mononucleated cells are activated in response to muscle injury, can transform into myoblasts, and may form or repair muscle fibers. Myosatellite cells can provide additional myonuclei for muscle regeneration or return to a...
Cross-bridge Cycle01:26

Cross-bridge Cycle

As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
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...
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...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

You might also read

Related Articles

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

Sort by
Same author

Exploring Dystrophin Expression and Mutations in the <i>DMD</i> and Dystrophin-Glycoprotein Complex Genes as Prognostic Factors in Leiomyosarcomas.

International journal of molecular sciences·2026
Same author

Specific HLA-DRB1 Alleles Associate With Anti-Caspr1 and Anti-CNTN1 Autoantibodies in Autoimmune Nodopathies.

Neurology(R) neuroimmunology & neuroinflammation·2026
Same author

Laboratory testing for anti-synthetase antibodies: a novel algorithm to improve diagnostic accuracy.

Clinica chimica acta; international journal of clinical chemistry·2026
Same author

Digital Monitoring of Patients with Generalized Myasthenia Gravis: A Prospective Pilot Study.

Neurology and therapy·2026
Same author

Brachio-cervical inflammatory myopathy: multilevel clinical, histopathological and multi-omic analyses of a syndrome variably associated with systemic sclerosis.

Acta neuropathologica·2026
Same author

Urinary glucose tetrasaccharide tracks disease activity in late-onset Pompe disease.

Neuromuscular disorders : NMD·2026

Related Experiment Video

Updated: Jun 2, 2026

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

Limb-girdle muscular dystrophy 2A.

Eduard Gallardo1, Amets Saenz, Isabel Illa

  • 1Department of Neurology and Laboratory of Experimental Neurology, Hospital de la Santa Creu i Sant Pau and Universitat Autònoma de Barcelona (UAB), Barcelona, Spain.

Handbook of Clinical Neurology
|April 19, 2011
PubMed
Summary
This summary is machine-generated.

Limb-girdle muscular dystrophy type 2A (LGMD2A) results from CAPN3 gene mutations, causing skeletal muscle issues. Adeno-associated virus (AAV) vectors show promise for gene therapy in mouse models.

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

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Related Experiment Videos

Last Updated: Jun 2, 2026

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

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Background:

  • Limb-girdle muscular dystrophy type 2A (LGMD2A) is a genetic disorder caused by mutations in the CAPN3 gene.
  • The CAPN3 gene encodes calpain-3, a protease crucial for skeletal muscle function, though its precise role is not fully understood.
  • Calpain-3 deficiency leads to sarcomere abnormalities and muscle fiber death, affecting muscles like hip adductors and gluteus maximus early on.

Purpose of the Study:

  • To summarize the current understanding of LGMD2A pathogenesis, clinical presentation, and potential therapeutic strategies.
  • To highlight the role of calpain-3 in skeletal muscle and the consequences of its deficiency.
  • To review the findings from CAPN3 knockout mouse models and evaluate gene therapy approaches.

Main Methods:

  • Review of existing literature on LGMD2A, CAPN3 gene mutations, and calpain-3 function.
  • Analysis of clinical and histopathological findings in LGMD2A patients.
  • Evaluation of data from characterized CAPN3 knockout mouse models.
  • Assessment of experimental therapeutics, particularly adeno-associated virus (AAV) vector-based gene transfer.

Main Results:

  • Over 300 mutations in the CAPN3 gene have been identified, all leading to LGMD2A.
  • Calpain-3 deficiency results in abnormal sarcomeres and muscle fiber death, with early impact on hip adductors and gluteus maximus.
  • Muscle biopsies reveal fiber size variability, fibrosis, internal nuclei, lobulated fibers, and sometimes eosinophilic infiltration, potentially linked to upregulated interleukin-32 and immunoglobulin genes.
  • CAPN3 knockout mouse models have been developed and studied.
  • Adeno-associated virus (AAV) vectors demonstrate efficiency and persistence for gene transfer in experimental therapeutics.

Conclusions:

  • LGMD2A is a complex muscular dystrophy arising from CAPN3 mutations, impacting skeletal muscle structure and function.
  • While no cure exists, AAV-mediated gene therapy presents a promising therapeutic avenue based on preclinical studies in mouse models.