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Related Concept Videos

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

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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...
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Myasthenia Gravis: Overview and Treatment01:20

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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...
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Myasthenia gravis is an autoimmune condition affecting neuromuscular transmission, causing generalized weakness in skeletal muscles. Initial diagnoses rely on patients' signs, symptoms, and medical history. The challenge lies in distinguishing myasthenia from other muscular dystrophies. An important diagnostic feature is the significant improvement of symptoms after administering anticholinesterase inhibitors.
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Chemical Synapses01:26

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Chemical synapses are specialized sites between two neurons or between a neuron and a non-neuronal cell like a muscle, glandular or sensory cell.
Because chemical synapses depend on the release of neurotransmitter molecules from synaptic vesicles to pass on their signal, there is an approximately one millisecond delay between when the axon potential reaches the presynaptic terminal and when the neurotransmitter leads to opening of postsynaptic ion channels. Additionally, this signaling is...
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Muscle Contraction01:10

Muscle Contraction

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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...
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Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Related Experiment Video

Updated: Jun 15, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Inherited myotonias.

Karen Suetterlin1, Roope Mӓnnikkӧ2, Dipa L Jayaseelan3

  • 1John Walton Centre for Muscular Dystrophy and AGE Research Group, Newcastle University, Newcastle Upon Tyne, United Kingdom.

Handbook of Clinical Neurology
|August 22, 2024
PubMed
Summary

Nondystrophic myotonias (NDM) are genetic muscle diseases affecting ion channels. Research explores their varying phenotypes, genetic causes, and treatment options like mexiletine and lamotrigine.

Keywords:
ChannelopathyClC-1Ion channelMyotonia congenitaMyotonic dystrophyNaV1.4NeuromuscularNondystrophic myotoniaParamyotonia congenitaSodium channel myotonia

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Area of Science:

  • Genetics
  • Neurology
  • Molecular Biology

Background:

  • Inherited myotonias are genetic disorders impacting muscle excitability due to ion channel gene variations.
  • Nondystrophic myotonias (NDM) present a pure muscle phenotype, distinct from dystrophic forms with systemic effects.
  • NDM clinical presentations vary significantly from infancy through adulthood.

Purpose of the Study:

  • To focus on key aspects of nondystrophic myotonias (NDM).
  • To understand the pathogenicity of different genetic variants using functional studies.
  • To review current and future treatment strategies for NDM.

Main Methods:

  • Analysis of genetic variations in ion channel genes.
  • Utilizing heterologous expression systems to assess channel property alterations.
  • Review of randomized controlled trials for therapeutic efficacy.

Main Results:

  • Genetic variations alter muscle membrane excitability, leading to myotonic discharges.
  • Heterologous expression aids in predicting disease likelihood based on altered channel function.
  • Mexiletine and lamotrigine show efficacy, with potential variant-specific responses.

Conclusions:

  • NDM are complex ion channelopathies with diverse clinical and genetic profiles.
  • Functional studies are crucial for understanding variant pathogenicity.
  • Personalized treatment approaches are needed, considering specific genetic alterations and drug kinetics.