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Related Concept Videos

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...
Alterations in Muscle Tone lll01:11

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...
Formation of Muscle Fibers from Myoblasts01:13

Formation of Muscle Fibers from Myoblasts

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 factors...
Types of Intermediate Filaments01:31

Types of Intermediate Filaments

The intermediate filaments are an essential component of the cytoskeleton. Presently six types of intermediate filament have been identified. Type I and II are acidic and basic keratin proteins. Type III is of mesodermal origin and comprises four proteins: vimentin, desmin, glial fibrillary acidic protein (GFAP), and peripherin. Vimentin is commonly found in mesenchymal cells, desmin in muscle cells, GFAP in astrocytes, while peripherin is found in peripheral nervous system neurons (PNS). Type...
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...
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...

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Updated: May 8, 2026

In Vitro Differentiation of Mature Myofibers for Live Imaging
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In Vitro Differentiation of Mature Myofibers for Live Imaging

Published on: January 7, 2017

Myofibrillar myopathies: new developments.

Montse Olivé1, Rudolf A Kley, Lev G Goldfarb

  • 1Institute of Neuropathology, Department of Pathology, IDIBELL-Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain. 25169mop@comb.cat

Current Opinion in Neurology
|September 3, 2013
PubMed
Summary
This summary is machine-generated.

Recent advances in genetic technologies have identified new genes and mechanisms underlying myofibrillar myopathies (MFMs), a group of muscle disorders. Understanding these molecular pathways is crucial for developing targeted therapies for MFMs.

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Last Updated: May 8, 2026

In Vitro Differentiation of Mature Myofibers for Live Imaging
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Published on: January 7, 2017

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05:58

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Area of Science:

  • Muscle Biology
  • Genetics
  • Molecular Medicine

Background:

  • Myofibrillar myopathies (MFMs) represent a diverse class of skeletal and cardiac muscle disorders.
  • Genetic factors and underlying mechanisms are key to understanding MFM pathogenesis.

Purpose of the Study:

  • To review recent discoveries in genes and disease mechanisms associated with myofibrillar myopathies.
  • To highlight advancements in the understanding and classification of MFMs.

Main Methods:

  • Next-generation sequencing for gene discovery.
  • Laser microdissection and mass spectrometry-based proteomics.
  • Cell transfection experiments and animal models for pathomechanism studies.

Main Results:

  • Identification of novel causative genes and pathomechanisms in MFMs.
  • Reclassification of MFM-linked disorders with variant phenotypes through new mutation discoveries.
  • Insights into MFM pathogenesis derived from cellular and animal models.

Conclusions:

  • An expanding list of genes contributes to various MFM subtypes.
  • Modern technologies combined with traditional methods enhance molecular diagnosis and understanding of pathogenic mechanisms.
  • Emphasis on developing specific prevention and therapeutic strategies for debilitating MFMs.