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Titin myopathy (5)

Muscle biopsy in mildly affected muscles shows variation of fiber size, thin atrophic fibers, central nuclei, internal structural changes, and endomysial fibrosis. In the target tibialis anterior muscle, there are frequently rimmed vacuoles (though this is not a consistent finding) and rare necrotic fibers. Rimmed vacuoles can be seen in other muscles. (Contributed by Dr. Duaa Jabari.)

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Associated Disorders

  • Desmin body myofibrillar myopathy
  • Distal myopathy with rimmed vacuoles
  • Early adult-onset myopathy with facial muscle weakness and sternomastoid atrophy
  • Early adult-onset myopathy with onset in legs in the posterior compartment
  • Early adult-onset myopathy with onset in the anterior compartment of the legs
  • Tibial muscular dystrophy