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 diseases in adults].

J Serratrice1, C Desnuelle, B Granel

  • 1Service de médecine interne, CHU Timone, 264, rue Saint-Pierre, 13385 Marseille, France.

La Revue De Medecine Interne
|January 25, 2002
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

Burden of incident cardiovascular events in giant cell arteritis using data from a nationwide French cohort.

Scientific reports·2026
Same author

[A reticular aspect of the abdomen].

La Revue de medecine interne·2026
Same author

Treatment pathway, healthcare resource utilization and direct cost of ALS in France: A nationwide claims database study.

Revue neurologique·2026
Same author

Inflammatory predictors of Post-COVID fatigue.

Brain, behavior, & immunity - health·2025
Same author

Prevalence of SOD1 and C9orf72 Variants Among French ALS Population: The GENIALS Study.

European journal of neurology·2025
Same author

Systemic cytokines related to memory function 6-9 months and 12-15 months after SARS-CoV-2 infection.

Scientific reports·2024

Mitochondrial diseases, often diagnosed in childhood, can manifest in adults with diverse symptoms. This review highlights adult mitochondrial disease phenotypes and diagnostic approaches.

Area of Science:

  • Genetics
  • Molecular Biology
  • Neurology

Context:

  • Mitochondrial diseases are a heterogeneous group of genetic disorders affecting energy production.
  • While often recognized in childhood, adult-onset mitochondrial diseases can be challenging to diagnose.
  • This review synthesizes literature from 1981-2001 on adult mitochondriopathies.

Purpose:

  • To review the literature on adult-onset mitochondrial diseases.
  • To describe the diverse phenotypic expressions of adult mitochondriopathies.
  • To illustrate diagnostic principles with a case report.

Summary:

  • Adult mitochondrial diseases present with varied phenotypes, including skeletal muscle, cardiac, neurological, and endocrinological involvement.
  • Diagnostic principles involve phenotype recognition, confirmation of mitochondrial abnormalities, and genetic analysis.

Related Experiment Videos

  • Key adult phenotypes include myopathies, cardiomyopathies, neurological syndromes (MERRF, MELAS, NARP, MNGIE), and multisystemic disorders like Kearns Sayre syndrome.

    • Impact:

    • Highlights the complexity of diagnosing adult mitochondrial diseases.
    • Emphasizes the multi-tissue involvement characteristic of these conditions.
    • Discusses potential future therapeutic strategies including replacement and genomic therapy, and genetic counseling.