Which histologic findings are characteristic of Ullrich congenital muscular dystrophy?

Updated: Jul 03, 2019
  • Author: Emad R Noor, MBChB; Chief Editor: Amy Kao, MD  more...
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Answer

Ullrich congenital muscular dystrophy

  • Variation ranges from mildly myopathic to dystrophic in terms of muscle fiber size, muscle fiber necrosis, and fibrosis.

  • Collagen type VI staining around surface of muscle fiber is usually reduced or absent, but staining may occur in connective tissue.

  • In Bethlem myopathy, routine muscle biopsy and collagen type VI immunohistochemistry usually are normal.


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