相关实验视频
Updated: Jul 19, 2025

09:39
Modeling Myotonic Dystrophy 1 in C2C12 Myoblast Cells
Published on: July 29, 2016
15.4K
生产性肌肉病变是一种先天性肌肉病变.
1Department of Clinical Medicine and Neuroscience, CUNY School of Medicine, New York, NY, United States; Department of Medicine, Section of Internal Medicine and Neurology, White Plains Hospital, White Plains, NY, United States.
Handbook of clinical neurology
|August 10, 2023
概括
先天性肌肉病是通过肌肉活检诊断的遗传性肌肉疾病. 遗传发现揭示了复杂的基因病理关系,挑战了传统的分类.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 肌肉生物学 肌肉生物学
背景情况:
- 先天性肌肉病是遗传的神经肌肉疾病,从出生就呈现低血压和软弱.
- 从历史上来看,按肌肉活检形态分类 (内马林,中央核心,中心核,先天性纤维类型不成比例).
研究的目的:
- 为提供先天性肌肉病的临床概述.
- 为这些疾病的遗传基础提供一个临床上有用的指南.
- 为了承认先进的遗传测序日益增长的作用.
主要方法:
- 关于先天性肌肉病的临床和遗传文献的综述.
- 分析历史的分类系统和最近的遗传发现.
- 强调对外体,亚外体和基因组测序的实用性.
主要成果:
- 人们越来越了解先天性肌肉病的遗传基础,挑战了简单的基因型-表型相关性.
- 遗传异质性很常见,多个基因导致类似的病理,单个基因导致不同的表型.
- 现型变异性存在于家庭内和跨年龄组的相同遗传突变.
结论:
- 传统的分类受到复杂的基因型-表型相关关系的挑战.
- 基因测序 (外体,基因组) 正成为主要的诊断工具.
- 临床概述和遗传指南对于管理先天性肌肉病变至关重要.
相关概念视频
Disorders of the Skeletal Muscle
994
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...
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...
994
Satellite Stem Cells and Muscular Dystrophy
2.0K
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...
2.0K
Inborn Errors of Metabolism
194
Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
194
Myasthenia Gravis: Overview and Treatment
1.6K
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...
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...
1.6K
Myasthenia Gravis: Diagnostic Tests
1.0K
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...
The edrophonium test is a diagnostic tool for myasthenia gravis. It involves...
1.0K
Formation of Muscle Fibers from Myoblasts
5.0K
De novo myogenesis, or the formation of muscle fibers, begins during the early embryonic stages. The skeletal muscle is formed from somites– blocks of embryonic cell layers. The somites are further divided into dermatomes, myotomes, sclerotomes, and syndetomes. Among these, the myotomes give rise to muscle fibers.
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription...
Muscle progenitor cells (MPCs) are formed from the myotomes. MPCs express genes that encode the transcription factors Pax3 and Pax7. Along with Pax 3/7, other transcription...
5.0K

