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myosin storage myopathy
Genetics:
- associated with defects in MYH7
Pathology:
- muscle biopsy shows
a) type 1 fiber predominance
b) increased interstitial fat & connective tissue
c) inclusion bodies consisting of the MYH7 are present in the majority of type 1 fibers, but not in type 2 fibers
General
genetic disease of muscle (inherited myopathy)
Database Correlations
OMIM 608358
References
OMIM :accession 608358