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

Myoclonus and mitochondrial myopathy.

L C Hopkins, H S Rosing

    Advances in Neurology
    |January 1, 1986
    PubMed
    Summary

    Mitochondrial myopathy can cause central nervous system diseases, including myoclonus, characterized by lactate and pyruvate accumulation. Maternal inheritance and deficient oxidative phosphorylation are key diagnostic features.

    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

    Teaching in the field: the model of a one-day trip to an outreach clinic.

    Seminars in neurology·2002
    Same author

    Emery-Dreifuss muscular dystrophy.

    Seminars in neurology·2000
    Same author

    Management of ALS: respiratory care.

    Neurology·1996
    Same author

    Successful treatment of neuropathies in patients with diabetes mellitus.

    Archives of neurology·1995
    Same author

    Guillain-Barré syndrome after an operation on the spine. A case report.

    The Journal of bone and joint surgery. American volume·1995
    Same author

    Sensitivity and specificity of vibrometry for detection of carpal tunnel syndrome.

    Journal of occupational and environmental medicine·1995

    Area of Science:

    • Neurology
    • Mitochondrial Diseases
    • Biochemistry

    Background:

    • Central nervous system (CNS) diseases associated with mitochondrial myopathy are reviewed.
    • Disorders causing myoclonus are compared to those where myoclonus is a reported symptom.
    • Both groups exhibit lactate and pyruvate accumulation and diverse clinical/pathologic findings.

    Purpose of the Study:

    • To review CNS diseases linked to mitochondrial myopathy.
    • To compare disorders causing myoclonus.
    • To identify distinguishing features of these specific patient groups.

    Main Methods:

    • Literature review of CNS diseases and mitochondrial myopathy.
    • Comparative analysis of disorders associated with myoclonus.
    • Examination of biochemical and genetic findings.

    Main Results:

    • Deficiency in respiratory chain components explains mitochondrial accumulation in muscles.
    • Skeletal muscle respiratory-chain deficiencies can lead to mitochondrial proliferation.
    • Patients present with elevated serum lactate and pyruvate due to impaired oxidative phosphorylation.
    • Maternal inheritance patterns are observed in affected pedigrees.

    Conclusions:

    • Elevated lactate and pyruvate from deficient oxidative phosphorylation distinguish these patients.
    • Maternal inheritance is a significant genetic marker for this group of mitochondrial myopathies.
    • Mitochondrial myopathies present a spectrum of clinical and pathological findings.

    Related Experiment Videos