Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Alterations in Muscle Tone lll

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...

Alterations in Muscle Tone ll

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...

Muscle Contraction

Muscle Contraction

In skeletal muscles, acetylcholine is released by nerve terminals at the motor endplate—the point of synaptic communication between motor neurons and muscle fibers. The binding of acetylcholine to its receptors on the sarcolemma allows entry of sodium ions into the cell and triggers an action potential in the muscle cell. Thus, electrical signals from the brain are transmitted to the muscle. Subsequently, the enzyme acetylcholinesterase breaks down acetylcholine to prevent excessive muscle...

Muscle Contraction

Muscle Contraction

Disorders of the Skeletal Muscle

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...

Myasthenia Gravis: Overview and Treatment

Myasthenia Gravis: Overview and Treatment

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 leads...

You might also read

Related Articles

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

Sort by

Same author

Protein-enhanced small molecule disruptors of ordered membrane domains.

Proceedings of the National Academy of Sciences of the United States of America·2026

Same author

Excitatory Dysfunction and Phenotypic Rescue in a Human Neuronal Model of <i>SCN2A</i>-Related Disorders.

bioRxiv : the preprint server for biology·2026

Same author

ACMG/AMP variant classification specifications from the ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel.

Genetics in medicine : official journal of the American College of Medical Genetics·2026

Same author

Combining automated patch clamp with optogenetics enables selective recording of DRG neurons subtypes.

bioRxiv : the preprint server for biology·2026

Same author

D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload.

JCI insight·2026

Same author

An upstream open reading frame represses translation of the neuronal potassium channel KCNQ2.

bioRxiv : the preprint server for biology·2026

Search research articles

Related Experiment Video

Updated: Jun 26, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

Myotonia congenita.

Christoph Lossin¹, Alfred L George²

¹Department of Neurology, UC Davis School of Medicine, Sacramento, California 95817.

Advances in Genetics

|February 3, 2009

Summary

Myotonia congenita is an inherited muscle disorder caused by mutations in the CLCN1 gene, affecting muscle relaxation. Understanding this condition highlights the role of chloride channels in muscle excitability.

Area of Science:

Muscle physiology
Genetics
Channelopathies

Background:

Myotonia is a symptom in various muscle disorders, characterized by impaired muscle relaxation.
Myotonia congenita is an inherited condition resulting from reduced sarcolemmal chloride conductance.
Mutations in the CLCN1 gene, encoding the ClC-1 chloride channel, cause myotonia congenita.

Purpose of the Study:

To investigate the genetic basis of myotonia congenita.
To understand the role of sarcolemmal chloride conductance in muscle excitability.
To identify the first human disease linked to the ClC family of chloride transporters.

Main Methods:

Genetic analysis of CLCN1 gene mutations.
Electrophysiological studies of muscle membrane excitability.

More Related Videos

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

Related Experiment Videos

Last Updated: Jun 26, 2026

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

Published on: July 29, 2016

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration

Published on: June 15, 2018

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

Clinical characterization of patients with myotonia congenita.

Main Results:

Identified numerous mutations in the CLCN1 gene associated with myotonia congenita.
Demonstrated that reduced ClC-1 chloride channel function leads to muscle hyperexcitability.
Established the link between CLCN1 mutations and autosomal-dominant or recessive inheritance patterns.

Conclusions:

Myotonia congenita is caused by impaired chloride transport in skeletal muscle due to CLCN1 mutations.
Sarcolemmal chloride conductance is crucial for regulating muscle excitability.
This study provides the first example of a human disease associated with the ClC family of chloride transporters.