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

Mitochondrial encephalomyopathies.

S DiMauro1, E Bonilla, A Lombes

  • 1Department of Neurology, Columbia-Presbyterian Medical Center, New York, New York.

Neurologic Clinics
|August 1, 1990
PubMed
Summary
This summary is machine-generated.

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

Methylene blue induced O<sub>2</sub> consumption is not dependent on mitochondrial oxidative phosphorylation: Implications for salvage pathways during acute mitochondrial poisoning.

Respiratory physiology & neurobiology·2022
Same author

Mitochondrial respiration controls neoangiogenesis during wound healing and tumour growth.

Nature communications·2020
Same author

DNA-editing enzymes as potential treatments for heteroplasmic mtDNA diseases.

Journal of internal medicine·2020
Same author

Life-threatening lactic acidosis occurring in adults with mitochondrial disorders.

Revue neurologique·2019
Same author

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Revue neurologique·2018
Same author

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

Journal of neurology·2017
Same journal

Sports Neurology.

Neurologic clinics·2026
Same journal

Sports-Related Peripheral Nerve Injuries.

Neurologic clinics·2026
Same journal

Active Rehabilitation and Return to Play in Sports-Related Concussion.

Neurologic clinics·2026
Same journal

Autonomic Assessment and Management in Sports-Related Concussion.

Neurologic clinics·2026
Same journal

Management of Vestibular Symptoms in Sports-Related Concussion.

Neurologic clinics·2026
Same journal

Neuropsychological Assessment in Sport-Related Concussion: Evidence, Controversies, and Clinical Applications.

Neurologic clinics·2026
See all related articles

Mitochondrial diseases are complex and varied, making classification challenging. This article reviews a general classification system based on genetic and biochemical features, reflecting recent research advancements.

Area of Science:

  • Biochemistry
  • Genetics
  • Neurology

Background:

  • Mitochondrial diseases exhibit significant heterogeneity in clinical presentation.
  • Multisystemic involvement, variable age of onset, and diverse disease courses are common.
  • Nonthyroidal hypermetabolism is a rare exception with a distinct clinical profile.

Purpose of the Study:

  • To discuss a general classification system for mitochondrial diseases.
  • To highlight the influence of genetic and biochemical investigations on classification efforts.
  • To address the controversies surrounding the classification of these complex disorders.

Main Methods:

  • Review of existing literature on mitochondrial disease classification.
  • Analysis of genetic and biochemical findings.

Related Experiment Videos

  • Consideration of clinical heterogeneity.

    • Main Results:

    • A general classification framework integrating genetic and biochemical data is proposed.
    • Recent advances in molecular genetics and biochemistry have informed classification.
    • The heterogeneity of mitochondrial diseases poses classification challenges.

    Conclusions:

    • Classification of mitochondrial diseases is evolving due to rapid scientific progress.
    • A unified classification considering genetic and biochemical aspects is crucial.
    • Further research is needed to refine classification and improve patient management.