Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Animal Mitochondrial Genetics02:59

Animal Mitochondrial Genetics

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...
Cross-bridge Cycle01:26

Cross-bridge Cycle

As muscle contracts, the overlap between the thin and thick filaments increases, decreasing the length of the sarcomere—the contractile unit of the muscle—using energy in the form of ATP. At the molecular level, this is a cyclic, multistep process that involves binding and hydrolysis of ATP, and movement of actin by myosin.
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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Parkinson Disease ll: Pathophysiology01:24

Parkinson Disease ll: Pathophysiology

Parkinson disease (PD) is a progressive neurodegenerative disorder primarily affecting movement, with additional non-motor features. Its pathophysiology involves complex interactions among genetic susceptibility, environmental exposures, and cellular dysfunction, including dopaminergic neuron loss, protein aggregation, and mitochondrial impairment.Selective NeurodegenerationA key feature is the degeneration of dopaminergic neurons in the substantia nigra pars compacta, leading to reduced...

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Joint Kinematics and Gait Pattern in Multiple Sclerosis: A 3D Analysis Comparative Approach.

Bioengineering (Basel, Switzerland)·2025
Same author

A multivariate analysis of the impact of knowledge and relationships on perceptions about aging among generation Z-a starting point for public health strategies.

Frontiers in public health·2025
Same author

Conventional physical therapy combined with extracorporeal shock wave leads to positive effects on spasticity in stroke survivors: a prospective observational study.

European journal of translational myology·2023
Same author

Psychological capital, quality of life, and well-being in mother caregivers of individuals with down syndrome.

Frontiers in psychology·2023
Same author

Group-based cardiac rehabilitation interventions. A challenge for physical and rehabilitation medicine physicians: a randomized controlled trial.

European journal of physical and rehabilitation medicine·2020
Same author

Aorta-umbilical vein fistulae in fetus with trisomy-17 mosaicism.

Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology·2019
Same journal

Eduard Pernkopf's Atlas: morphological innovation and ethical legacy in the history of anatomical illustration.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

Differential histopathological features and comorbidity profiles in chronic rhinosinusitis phenotypes.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

SEM evaluation of dental cement surface morphology and microbial adhesion - a comparative study.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

Evaluation of neurotrophic therapies for sciatic nerve injury in mice.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

A longitudinal study of dual-energy X-ray absorptiometry status in menopausal women with adrenal tumors.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
Same journal

Corticosteroid therapy in chronic rhinosinusitis with nasal polyps: from histopathological tissue remodeling to patient adherence and barriers.

Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie·2026
See all related articles

Related Experiment Video

Updated: Jul 7, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

Charcot-Marie-Tooth disease.

Elena Buteică1, Eugenia Roşulescu, B Stănoiu

  • 1Department of Genetics, University of Medicine and Pharmacy of Craiova, Romania. buteicaelena@yahoo.com

Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie
|February 15, 2008
PubMed
Summary
This summary is machine-generated.

Charcot-Marie-Tooth (CMT) disease is a progressive genetic peripheral neuropathy causing muscle weakness and sensory loss. Diagnosis involves clinical assessment and molecular genetic testing to identify specific CMT types.

More Related Videos

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

An Improved Method to Isolate Mitochondrial Contact Sites
07:55

An Improved Method to Isolate Mitochondrial Contact Sites

Published on: June 16, 2023

Related Experiment Videos

Last Updated: Jul 7, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
07:43

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons

Published on: January 7, 2019

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

An Improved Method to Isolate Mitochondrial Contact Sites
07:55

An Improved Method to Isolate Mitochondrial Contact Sites

Published on: June 16, 2023

Area of Science:

  • Neurology
  • Genetics
  • Clinical Medicine

Background:

  • Charcot-Marie-Tooth (CMT) disease encompasses a spectrum of inherited peripheral neuropathies.
  • It presents with diverse clinical and genetic manifestations, primarily affecting peripheral nerves.

Observation:

  • Patients typically exhibit progressive muscle weakness and atrophy, predominantly in distal extremities.
  • Sensory dysfunction and skeletal deformities like pes cavus and hammertoes are common features.
  • Disease severity varies significantly across different CMT subtypes.

Findings:

  • Clinical assessment, including physical examination, electrophysiological testing, and family history, aids in diagnosis.
  • Molecular genetic testing is crucial for definitive diagnosis and subtyping of CMT.
  • This study details the clinical assessment of two CMT cases.

Implications:

  • Accurate diagnosis through clinical and genetic methods is essential for understanding CMT progression.
  • Identifying specific CMT types guides prognosis and potential therapeutic strategies.
  • Further research into CMT subtypes can improve patient management and outcomes.