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相关概念视频

Disorders of the Skeletal Muscle01:28

Disorders of the Skeletal Muscle

906
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

Myasthenia Gravis: Overview and Treatment

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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...
1.3K
Myasthenia Gravis: Diagnostic Tests01:15

Myasthenia Gravis: Diagnostic Tests

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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.
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
709
Chemical Synapses01:26

Chemical Synapses

8.8K
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...
8.8K
Muscle Contraction01:10

Muscle Contraction

6.3K
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...
6.3K
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

7.5K
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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相关实验视频

Updated: Jun 15, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
09:39

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells

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遗传的肌肉.

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
概括

非缩性肌病 (NDM) 是一种影响离子通道的遗传性肌肉疾病. 研究探讨了它们的不同表型,遗传原因和治疗选择,如mexiletine和lamotrigine.

关键词:
道病变是一种通道病变.这就是 ClC-1 的原因.离子通道 离子通道这种植物是Myotonia congenita.肌性发育不良症 肌性发育不良症在 NaV1.4 中使用.这是神经肌肉.没有化的肌.帕拉米托尼亚先天性.通道神经 (myotonia) 是一种通道神经.

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Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish
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Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish

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Measuring Neuromuscular Junction Functionality
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相关实验视频

Last Updated: Jun 15, 2025

Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
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Using Touch-evoked Response and Locomotion Assays to Assess Muscle Performance and Function in Zebrafish
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科学领域:

  • 遗传学 遗传学 是一个
  • 神经学 神经学
  • 分子生物学分子生物学

背景情况:

  • 遗传性肌是一种遗传性疾病,由于离子通道基因变异影响肌肉刺激能力.
  • 非缩性肌 (NDM) 呈现出纯肌肉表型,与具有全身影响的缩性形式不同.
  • 从婴儿期到成年期,NDM的临床表现有很大的不同.

研究的目的:

  • 专注于非缩性肌病 (NDM) 的关键方面.
  • 通过功能研究来了解不同遗传变异的病原性.
  • 审查NDM目前和未来的治疗策略.

主要方法:

  • 对离子通道基因遗传变异的分析.
  • 使用异质表达系统来评估通道属性变化.
  • 随机对照试验对治疗疗效的审查.

主要成果:

  • 遗传变异改变了肌肉膜的刺激性,导致肌性放电.
  • 异质表达有助于根据改变的通道功能来预测疾病的可能性.
  • 梅克西莱丁和拉莫特里金显示有效性,具有潜在的变异特异性反应.

结论:

  • NDM是复杂的离子通道病变,具有不同的临床和遗传特征.
  • 功能性研究对于理解变种病原性至关重要.
  • 需要个性化治疗方法,考虑到特定的遗传改变和药物动力学.