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

Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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...
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...
Overview of Protein Metabolism01:21

Overview of Protein Metabolism

Proteins are broken down into amino acids during digestion. Unlike fats and carbohydrates, which are stored for later use, proteins are not. Instead, amino acids are either used to produce ATP through oxidation or contribute to the creation of new proteins for the growth and repair of the body. Any surplus amino acids from the diet are converted into glucose or triglycerides rather than excreted.
Amino acids play various roles in the body once they are absorbed into cells. They are restructured...
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.
Satellite Stem Cells and Muscular Dystrophy01:21

Satellite Stem Cells and Muscular Dystrophy

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...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...

You might also read

Related Articles

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

Sort by
Same author

The 2026 British Society of Gastroenterology guidelines on the diagnosis and management of adult coeliac disease.

Gut·2026
Same author

Paraneoplastic Cerebellar Degeneration Due to Tonsillar Cancer; A Case Series.

Cerebellum (London, England)·2026
Same author

A Case of Voltage-Gated Calcium Channel and TG6 Antibody-Positive Cerebellar Ataxia.

Case reports in neurological medicine·2026
Same author

Are cognitive subtleties too subtle to see? A diffusion tensor imaging validation of the subtle cognitive impairment test and other psychometric assessments in a normative sample.

Brain imaging and behavior·2026
Same author

Pembrolizumab-Responsive Cerebellar PML in Untreated Sarcoidosis: A Case Report.

Cerebellum (London, England)·2026
Same author

Factors Affecting Gluten-Free Dietary Adherence in Patients with Neurological Gluten-Related Disease.

Nutrients·2026

Related Experiment Video

Updated: May 28, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

A metabolic muscle disease.

Muhammad Khizar Rafiq1, Valerie Critcher, Marios Hadjivassiliou

  • 1Royal Hallamshire Hospital, Neurology, Glossop Road, Sheffield, South Yorkshire S10 2RA, UK.

BMJ Case Reports
|October 14, 2011
PubMed
Summary

McArdle disease, a metabolic myopathy, caused lifelong fatigability in a woman. Elevated creatine kinase levels, initially linked to simvastatin, led to its diagnosis via muscle biopsy.

Area of Science:

  • Muscle Metabolism and Neuromuscular Disorders
  • Biochemistry and Genetic Diseases

Background:

  • Lifelong exertional fatigability is a common yet often misdiagnosed symptom.
  • Misinterpretation of symptoms can lead to significant psychosocial distress and mislabeling.
  • Drug-induced myopathies, like statin-induced creatine kinase elevation, can complicate differential diagnosis.

Purpose of the Study:

  • To highlight the diagnostic challenges in identifying rare metabolic myopathies.
  • To emphasize the importance of considering underlying genetic conditions despite confounding factors.
  • To present a case of McArdle disease diagnosed late in life.

Main Methods:

  • Detailed patient history focusing on lifelong exertional fatigability.
  • Biochemical analysis including creatine kinase (CK) levels.

More Related Videos

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

Measurement of Mitochondrial Respiration in Human and Mouse Skeletal Muscle Fibers by High-Resolution Respirometry
08:12

Measurement of Mitochondrial Respiration in Human and Mouse Skeletal Muscle Fibers by High-Resolution Respirometry

Published on: October 4, 2024

Related Experiment Videos

Last Updated: May 28, 2026

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle
09:40

Phosphorus-31 Magnetic Resonance Spectroscopy: A Tool for Measuring In Vivo Mitochondrial Oxidative Phosphorylation Capacity in Human Skeletal Muscle

Published on: January 19, 2017

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases
06:52

Behavioral and Locomotor Measurements Using an Open Field Activity Monitoring System for Skeletal Muscle Diseases

Published on: September 29, 2014

Measurement of Mitochondrial Respiration in Human and Mouse Skeletal Muscle Fibers by High-Resolution Respirometry
08:12

Measurement of Mitochondrial Respiration in Human and Mouse Skeletal Muscle Fibers by High-Resolution Respirometry

Published on: October 4, 2024

  • Confirmation of diagnosis through muscle biopsy.

    • Main Results:

    • The patient exhibited persistent fatigability exacerbated by exertion.
    • Elevated CK levels were observed, initially attributed to simvastatin but persisted after drug cessation.
    • Muscle biopsy confirmed the diagnosis of McArdle disease.

    Conclusions:

    • McArdle disease should be considered in the differential diagnosis of unexplained lifelong exertional fatigability.
    • Persistent elevation of creatine kinase, even after drug withdrawal, warrants further investigation for underlying myopathies.
    • Early and accurate diagnosis of metabolic myopathies is crucial for appropriate management and patient well-being.