Jove
Visualize
Contact Us

Related Experiment Videos

[Lipidic myopathies]

J L Muñoz-Blanco1

  • 1Servicio de Neurología, Hospital General Universitario Gregorio Marañón, Madrid, España. jmunozb@meditex.es

Revista De Neurologia
|November 12, 1998
PubMed
Summary
This summary is machine-generated.

Lipid storage myopathies stem from fatty acid metabolism defects in muscle fibers. Diagnosis has advanced, allowing molecular classification of these disorders.

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

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.

Neurologia·2019
Same author

Flail-arm variant of amyotrophic lateral sclerosis in a Spanish soccer player.

European journal of neurology·2012
Same author

Long-lasting treatment effect of rituximab in MuSK myasthenia.

Neurology·2012
Same author

[Prolonged acute renal failure and severe polyradiculopathy in ethylene glycol intoxication].

Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia·2007
Same author

[Segmental motor paralysis caused by the varicella zoster virus. Clinical study and functional prognosis].

Revista de neurologia·2001
Same author

[Giant cell arteritis, bilateral anterior ischemic optic neuropathy and anticardiolipin antibodies].

Revista de neurologia·2000
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

Area of Science:

  • Biochemistry
  • Molecular Biology
  • Genetics

Context:

  • Lipid storage myopathies involve impaired fatty acid metabolism within muscle fibers.
  • Enzymatic processes in mitochondrial membranes and matrix are crucial for fatty acid oxidation.

Purpose:

  • To summarize the understanding of lipid storage myopathies.
  • To highlight diagnostic advancements and molecular classification.

Summary:

  • These myopathies arise from biochemical defects affecting muscle fatty acid metabolism.
  • Clinical presentations are broadly categorized into early-onset (metabolic crisis, multisystemic failure) and late-onset (myopathy, myoglobinuria) phenotypes.
  • Recent diagnostic progress enables molecular-level classification based on specific defects.

Related Experiment Videos

Impact:

  • Improved diagnostic capabilities for lipid storage myopathies.
  • Enhanced understanding of the molecular basis of muscle diseases.
  • Facilitation of targeted research and potential therapeutic strategies.