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Related Experiment Video

Updated: May 29, 2026

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Autosomal dominant multicore disease

J A Vanneste, F C Stam

    Journal of Neurology, Neurosurgery, and Psychiatry
    |April 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    This study describes multicore myopathy in a mother and her two daughters, revealing Z-band disorganization and reduced enzyme activity in muscle cores. Autosomal dominant inheritance was observed, with elevated muscle enzyme activity in the children.

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    Area of Science:

    • Neurology
    • Genetics
    • Muscle Biology

    Background:

    • Multicore myopathy is a group of congenital muscle disorders characterized by specific structural abnormalities in muscle fibers.
    • Understanding the genetic basis and clinical presentation of different myopathy subtypes is crucial for diagnosis and management.

    Observation:

    • The study details a family with three affected individuals (mother and two daughters) diagnosed with multicore myopathy.
    • Muscle biopsy analysis revealed characteristic cores composed of Z-band disorganization and diminished or absent specific enzyme activities.

    Findings:

    • Clinical manifestations varied, with only one individual exhibiting clear signs of myopathy.
    • Elevated muscle enzyme activity was detected in the two affected children, suggesting ongoing muscle damage.
    • The mode of inheritance was determined to be autosomal dominant, indicating a genetic transmission pattern.

    Implications:

    • This case highlights the variable clinical expressivity of multicore myopathy, even within the same family.
    • The findings contribute to the understanding of the genetic and pathological spectrum of this neuromuscular disorder.
    • Further research into the specific genetic mutations and their correlation with enzyme activity and clinical signs is warranted.