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

2.5K
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...
2.5K
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

603
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...
603
Cross-bridge Cycle01:26

Cross-bridge Cycle

124.0K
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.
124.0K
Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

2.2K
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...
2.2K
Muscles that Move the Arm01:31

Muscles that Move the Arm

5.2K
Nine muscles are involved in arm movements. Two of these, the pectoralis major and latissimus dorsi, originate from the axial skeleton and are called axial muscles. The other seven originate from the scapula and are called the scapular muscles.
The pectoralis major has two origins. Its clavicular head originates on the medial half of the clavicle. In contrast, the sternocostal head originates on the costal cartilages of ribs 1-6, the sternum, and the aponeurosis of the external oblique of the...
5.2K
Myasthenia Gravis: Overview and Treatment01:20

Myasthenia Gravis: Overview and Treatment

3.2K
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...
3.2K

You might also read

Related Articles

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

Sort by
Same author

Plasma EV Proteomics Identifies ECM Remodeling and Inflammatory Proteins LUM and C7 as Candidate Biomarkers in FSHD.

Annals of clinical and translational neurology·2026
Same author

Longitudinal Psychometric Properties of the Myotonic Dystrophy Health Index in a Large Multicenter Cohort of People Living With Myotonic Dystrophy Type 1.

Muscle & nerve·2026
Same author

Natural history of limb girdle muscular dystrophy R1 (LGMDR1): a GRASP consortium study.

Neuromuscular disorders : NMD·2026
Same author

Quantitative Measurement of Glycosylated ⍺-Dystroglycan as a Biomarker for Disease Severity in Limb-Girdle Muscular Dystrophy Type 2I/R9.

Neurology. Genetics·2026
Same author

Late-onset facioscapulohumeral muscular dystrophy defines a distinct clinical subgroup.

Neuromuscular disorders : NMD·2026
Same author

Prospective Study of Video Hand Opening Time as a Quantitative Measurement of Myotonia in Patients With Myotonic Dystrophy Type 1.

Neurology·2026

Related Experiment Video

Updated: Mar 10, 2026

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
08:16

Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

Published on: March 4, 2014

33.4K

Facioscapulohumeral Muscular Dystrophy.

Jeffrey M Statland, Rabi Tawil

    Continuum (Minneapolis, Minn.)
    |December 7, 2016
    PubMed
    Summary
    This summary is machine-generated.

    Facioscapulohumeral muscular dystrophy (FSHD) has two types, FSHD1 and FSHD2, both causing toxic DUX4 protein expression. Research now focuses on drug development and clinical trials for this epigenetic disease.

    More Related Videos

    Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice
    07:48

    Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice

    Published on: September 16, 2019

    10.6K
    Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
    10:28

    Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

    Published on: April 3, 2021

    7.2K

    Related Experiment Videos

    Last Updated: Mar 10, 2026

    Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis
    08:16

    Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

    Published on: March 4, 2014

    33.4K
    Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice
    07:48

    Performing Human Skeletal Muscle Xenografts in Immunodeficient Mice

    Published on: September 16, 2019

    10.6K
    Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders
    10:28

    Direct Reprogramming of Human Fibroblasts into Myoblasts to Investigate Therapies for Neuromuscular Disorders

    Published on: April 3, 2021

    7.2K

    Area of Science:

    • Neurology
    • Genetics
    • Epigenetics

    Background:

    • Facioscapulohumeral muscular dystrophy (FSHD) is a genetically heterogeneous neuromuscular disorder.
    • Understanding its molecular pathogenesis is crucial for developing effective treatments.

    Observation:

    • FSHD involves two distinct genetic types (FSHD1 and FSHD2) that converge on the expression of the toxic DUX4 protein.
    • FSHD1 results from D4Z4 repeat loss on chromosome 4q, leading to DUX4 derepression.
    • FSHD2 arises from a deletion-independent mechanism, also causing DUX4 derepression, often involving SMCHD1 mutations.

    Findings:

    • Both FSHD types require permissive 4q polymorphisms for DUX4 expression due to its lack of a polyadenylation signal.
    • FSHD is an epigenetic disease where severity correlates with D4Z4 units and methylation.
    • FSHD1 exhibits dominant inheritance, while FSHD2 shows digenic inheritance.

    Implications:

    • Recent guidelines provide standards of care for FSHD patients.
    • Identification of therapeutic targets is driving research towards drug development and clinical trial planning for FSHD.