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

Lipid storage myopathy with normal carnitine levels.

F Jerusalem, H Spiess, G Baumgartner

    Journal of the Neurological Sciences
    |March 1, 1975
    PubMed
    Summary

    This study describes a lipid storage myopathy case with non-progressive muscle weakness. Muscle biopsies revealed abnormal fat spaces and slight mitochondrial changes, ruling out carnitine deficiency.

    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

    Zooplankton communities and their relationship with water quality in eight reservoirs from the midwestern and southeastern regions of Brazil.

    Brazilian journal of biology = Revista brasleira de biologia·2020
    Same author

    Spatial and temporal variations in fish assemblage: testing the zonation concept in small reservoirs.

    Brazilian journal of biology = Revista brasleira de biologia·2017
    Same author

    [DSM-5--what has changed in therapy for and research on substance-related and addictive disorders?].

    Fortschritte der Neurologie-Psychiatrie·2013
    Same author

    In vitro antitumor activity of MIC2 protein-doxorubicin conjugates.

    International journal of oncology·2011
    Same author

    Life-span study on late effects of 224Ra in children and adults.

    Health physics·2010
    Same author

    Coincidence of a ductal pancreatic cyst and a gastric duplication cyst: a case report.

    European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie·2008

    Area of Science:

    • Neurology
    • Muscle Physiology
    • Biochemistry

    Background:

    • Lipid storage myopathies are rare neuromuscular disorders.
    • They can present with muscle weakness and fatigue.
    • Differential diagnosis includes various metabolic and genetic causes.

    Purpose of the Study:

    • To investigate the underlying mechanisms of a lipid storage myopathy in an adult patient.
    • To characterize the muscle pathology and rule out specific biochemical defects.

    Main Methods:

    • Muscle biopsy and histopathological analysis (light and electron microscopy).
    • Morphometric analysis of muscle fiber components.
    • Biochemical assays for carnitine and carnitine palmityltransferase levels.

    Main Results:

    • Muscle biopsies showed abnormal lipid spaces in type I and type II fibers with type I fiber predominance.
    • Electron microscopy revealed lipid excess and normal mitochondria on initial inspection, but morphometry indicated decreased mitochondrial size and sarcotubular membrane concentration in cross-sections.
    • Serum and muscle carnitine and carnitine palmityltransferase levels were normal.

    Conclusions:

    • The patient presented with a lipid storage myopathy not caused by carnitine deficiency.
    • Lipid storage myopathy is a syndrome with diverse etiologies, necessitating comprehensive biochemical investigation.
    • Further research is needed to elucidate the specific biochemical defects in non-carnitine-deficient lipid storage myopathies.

    Related Experiment Videos