myosin storage myopathy

Pathology

• muscle biopsy shows
  • type 1 fiber predominance
  • increased interstitial fat & connective tissue
  • inclusion bodies consisting of the MYH7 are present in the majority of type 1 fibers, but not in type 2 fibers

Genetics

• associated with defects in MYH7

More general terms

• genetic disease of muscle (inherited myopathy)

Database

• OMIM: https://mirror.omim.org/entry/608358