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Related Concept Videos

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...
Myasthenia Gravis: Overview and Treatment01:20

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...
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

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.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
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...
Chemical Synapses01:26

Chemical Synapses

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...
Chemical Synapses01:26

Chemical Synapses

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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Related Experiment Video

Updated: May 8, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
06:35

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

Published on: June 15, 2018

GNE myopathy in India.

Atchayaram Nalini1, Narayanappa Gayathri, Ischizo Nishino

  • 1Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.

Neurology India
|September 6, 2013
PubMed
Summary

GNE myopathy, a genetic muscle disorder, was confirmed in nine patients through genetic testing. A common GNE gene mutation (p.Val696Met) was identified in Southeast Asian patients, indicating a shared genetic cause.

Area of Science:

  • Genetics
  • Neurology
  • Rare Diseases

Background:

  • GNE myopathy is an inherited distal myopathy.
  • Mutations in the GNE gene are the known cause.
  • Characterized by progressive muscle weakness and wasting.

Purpose of the Study:

  • To investigate GNE gene mutations in patients diagnosed with GNE myopathy.
  • To identify common mutations in the Southeast Asian population.

Main Methods:

  • Clinical and histopathological diagnosis of 54 patients over 6 years.
  • Genetic testing for GNE mutations in 12 patients from 11 families.
  • Analysis of mutation c. 2086G > A (p.Val696Met).

Main Results:

  • Nine patients (8 families) were genetically confirmed GNE myopathy cases.

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Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles
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Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles

Published on: September 25, 2015

Related Experiment Videos

Last Updated: May 8, 2026

In Vivo Electrophysiological Measurement of Compound Muscle Action Potential from the Forelimbs in Mouse Models of Motor Neuron Degeneration
06:35

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

Published on: June 15, 2018

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction
11:07

Engineering and Characterization of an Optogenetic Model of the Human Neuromuscular Junction

Published on: April 14, 2022

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles
09:07

Electrophysiological Motor Unit Number Estimation (MUNE) Measuring Compound Muscle Action Potential (CMAP) in Mouse Hindlimb Muscles

Published on: September 25, 2015

  • Mean age of onset was 26.7 years; mean age at examination was 32.3 years.
  • The common GNE mutation c. 2086G > A (p.Val696Met) was found in 6 of 8 families.

    • Conclusions:

    • Confirms the presence of GNE myopathy in Southeast Asia.
    • Highlights a common GNE gene mutation (p.Val696Met) in the region.
    • Supports genetic analysis for diagnosing GNE myopathy.