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Can you tell me about the muscle condition 'central core myopathy'?

1 doctor weighed in
Dr. Jefferson Chen
Neurosurgery

In brief: Central core disease

Central core disease is a myopathy that leads to weakness of the skeletal muscles.
This can lead to hypotonia (absence of muscle tone) and infants that have this present with "floppy child syndrome". The term comes from the pathologic appearance of a void in the central part of the muscle fibers. The ryr1 gene is aberrant and there are abnormalities in calcium channels.

In brief: Central core disease

Central core disease is a myopathy that leads to weakness of the skeletal muscles.
This can lead to hypotonia (absence of muscle tone) and infants that have this present with "floppy child syndrome". The term comes from the pathologic appearance of a void in the central part of the muscle fibers. The ryr1 gene is aberrant and there are abnormalities in calcium channels.
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