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

Multicore myopathy--a case report

N H Myong1, Y K Kang, J G Chi

  • 1Department of Pathology, Seoul National University College of Medicine, Korea.

Journal of Korean Medical Science
|August 1, 1993
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

Four-year overall survival update from the phase III HIMALAYA study of tremelimumab plus durvalumab in unresectable hepatocellular carcinoma.

Annals of oncology : official journal of the European Society for Medical Oncology·2024
Same author

[Application value of DNA damage repair variants in adjuvant therapy of triple negative breast cancer].

Zhonghua zhong liu za zhi [Chinese journal of oncology]·2023
Same author

Fiber reinforced hydrated networks recapitulate the poroelastic mechanics of articular cartilage.

Acta biomaterialia·2023
Same author

[The prospects of DNA damage repair variants guiding platinum compounds in the treatment of triple negative breast cancer].

Zhonghua zhong liu za zhi [Chinese journal of oncology]·2022
Same author

A Phase II Trial of UFT-E and Oral Leucovorin in Advanced Colorectal Cancer.

Cancer research and treatment·2015
Same author

Expression of Cyclin-dependent Kinase Inhibitor p21(WAF1/CIP1) in Non-small Cell Lung Carcinomas: Relationship with p53 Status and Proliferative Activity.

Cancer research and treatment·2015

Multicore myopathy, a rare congenital condition, presents as muscle weakness. This study details a case in a 9-year-old boy, highlighting diagnostic features and microscopic findings.

Area of Science:

  • Neurology
  • Muscle Biology
  • Genetics

Background:

  • Multicore myopathy is a rare congenital myopathy characterized by specific microscopic findings in muscle fibers.
  • It is often associated with muscle weakness presenting in infancy, which can be non-progressive or slowly progressive.

Observation:

  • A 9-year-old boy presented with congenital nonprogressive myopathy, thoracic scoliosis, and bilateral equinovarus deformity.
  • Serum creatine phosphokinase and lactic dehydrogenase levels were normal, with electromyography showing myopathic features.
  • Muscle biopsy revealed marked myofiber size variation, type I fiber predominance, peripheral minicores with reduced oxidative activity, and minimal fibrosis.

Findings:

  • Histochemical analysis demonstrated well-defined peripheral cores (minicore lesions) with loss of intermyofibrillary mitochondrial activity.

Related Experiment Videos

  • Electron microscopy confirmed disintegrated Z-band material and disorganized sarcomeric units, with reduced mitochondria and glycogen particles within the cores.
  • These findings are consistent with multicore myopathy, specifically the minicore variant.

    • Implications:

    • This case contributes to understanding the clinical and pathological spectrum of congenital myopathies.
    • Accurate diagnosis through muscle biopsy and advanced imaging is crucial for patient management and genetic counseling.
    • Further research into the genetic underpinnings and therapeutic strategies for multicore myopathy is warranted.