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 Experiment Videos

[Muscular glycogenoses].

T de Barsy1, J F Pellissier

  • 1Faculté de Médecine U.C.L., Laboratoire de Chimie Physiologique, Bruxelles, Belgique.

La Revue De Medecine Interne
|May 1, 1991
PubMed
Summary
This summary is machine-generated.

Muscular glycogenosis involves genetic defects in glycogen metabolism enzymes. Understanding these glycogenolytic and glycolytic pathway disorders is key to recognizing muscle dysfunction and symptoms.

Related Concept Videos

You might also read

Related Articles

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

Sort by
Same author

Sporadic diffuse leucoencephalopathy with axonal spheroids: report of a profuse and rapid cortical-spinal degeneration.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·2011
Same author

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

Mitochondrion·2007
Same author

[Foreword - macrophage mediated myofasciites].

Revue neurologique·2007
Same author

[Brain magnetic resonance imaging and neuropathology of cortical laminar necrosis].

Revue neurologique·2007
Same author

[Fasciitis with eosinophilia: a possible causal role of angiotensin converting enzyme inhibitor].

Revue neurologique·2007
Same author

In vivo and in vitro characterization of skeletal muscle metabolism in patients with statin-induced adverse effects.

Arthritis and rheumatism·2006
Same journal

[Abdominal pain, fever and arthralgia in a 49-year-old woman].

La Revue de medecine interne·2026
Same journal

[Cardiorespiratory functional disorders: A transnosologic approach].

La Revue de medecine interne·2026
Same journal

[Diagnostic evaluation for suspected polycythemia].

La Revue de medecine interne·2026
Same journal

Heart involvements in systemic sclerosis beyond pulmonary hypertension: From conduction, rhythm and function defects to coronary artery disease.

La Revue de medecine interne·2026
Same journal

[Acute intermittent porphyria: When diagnostic errance jeopardizes patient health].

La Revue de medecine interne·2026
Same journal

Autosomal dominant polycystic kidney disease: Current perspectives in 2026.

La Revue de medecine interne·2026
See all related articles

Area of Science:

  • Biochemistry
  • Genetics
  • Muscle Physiology

Context:

  • Muscular glycogenosis stems from genetic mutations affecting enzymes crucial for glycogen metabolism.
  • Disruptions in glycogenolysis and glycolysis, including acid maltase deficiency, lead to abnormal glycogen structures and impaired muscle function.
  • Glycolysis is vital for ATP production, especially under anaerobic conditions, highlighting its importance in muscle energy supply.

Purpose:

  • To provide a comprehensive review of diseases affecting the glycogenolytic and glycolytic pathways.
  • To elucidate the biochemical and genetic basis of muscular glycogenosis.
  • To connect metabolic pathway disturbances with clinical manifestations in muscle disorders.

Summary:

  • This review examines muscular glycogenosis, a group of genetic disorders impacting enzymes in glycogen metabolism.

Related Experiment Videos

  • It details conditions like acid maltase deficiency and abnormal glycogen structure, emphasizing the role of glycolysis in ATP production.
  • Understanding these metabolic defects is crucial for diagnosing and managing muscle dysfunction and associated symptoms.

    • Impact:

    • Enhances understanding of the molecular mechanisms underlying muscular glycogenosis.
    • Facilitates the identification of diagnostic markers and therapeutic targets for glycogen storage diseases.
    • Provides a foundational resource for researchers and clinicians studying metabolic myopathies.