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Minicore myopathy with dominant inheritance.

L Paljärvi, H Kalimo, H Lang

    Journal of the Neurological Sciences
    |January 1, 1987
    PubMed
    Summary

    Minicore disease, a muscle disorder, can be inherited. This study presents a mother and son with minicore myopathy, suggesting a dominant inheritance pattern for this benign myopathy.

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    Area of Science:

    • Neurology
    • Genetics
    • Muscle Biology

    Background:

    • Minicore disease (multicore disease) is a myopathy defined by muscle fiber degeneration.
    • It is typically considered sporadic or autosomal recessive.

    Observation:

    • This study details two patients, a mother and son, exhibiting non-progressive proximal and distal muscle weakness.
    • Muscle biopsies revealed characteristic minicore myopathy features: focal oxidative enzyme defects and cross-striation disturbances.
    • Abnormalities in normal fiber type differentiation were also noted.

    Findings:

    • The observed cases suggest a potential dominant inheritance pattern for minicore myopathy.
    • This contrasts with the generally accepted sporadic or recessive inheritance models.

    Implications:

    • These findings challenge the traditional understanding of minicore disease inheritance.
    • Further research into dominant forms of minicore myopathy is warranted.
    • This could impact genetic counseling and diagnostic approaches for affected families.

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