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Table 3 Myopathological findings

From: Diagnostically important muscle pathology in DNAJB6 mutated LGMD1D

  Muscle Neurogenic fiber type grouping Fiber type predominance Fiber size variation Fibrosis and fatty degeneration Increase of internal nuclei Fiber splitting Necrosis Lymphocyte infiltrates Fiber regeneration Rimmed vacuoles Cytoplasmic myofibrillar inclusions Core-like lesions Rubbed-out fibers Moth-eaten Lobulated fibers Ragged red fibers COX– fibers
FF1
  III-6 VL +   ++ + + + + + ++ +
  III-8 S (+) ++ ++ ++ ++   + ++ ++
  III-12 VL + (+) + + (+) +  
   GLU + (+) + + + + + ++ +  
   VL   (+) + + + + + + ++ +
  IV-7 GM + + + + + + + + +++
   GM ++ ++ ++ ++ + + ++ ++ + +
  IV-8 GM + + + + + + + + + + +
  IV-9 VL + + + + + + + + + +
   VL + ++ + + + + (+) (+)
  IV-10 VL + (+) +
   VL + + + + + +
FF2
  III-4 VL   + + + + (+)
  III-5 VL   + + + ++ (+)
  III-7 VL   ++ ++ +++ + + + + + + + +
FF3
  IV-1 VL + ++ + +++ + + + + ++ + +
   GL ++ + ++ + ++ + + ++ ++ + + (+)
FF4
  III-2 VL + ++ ++ ++ + + + + + +
  IV-1 VL (+) + + + + + ++ +
FF5
  IV-1 VL + ++ ++ ++ + + + ++ + + +++
FF6
  IV-1 VL + ++ ++ + + + + + (+)
  1. Internal nuclei amount assessed as: –, absent; (+), existent in < 1 %; +, existent up to 5 %; ++, existent in 6–20 %; +++, existent in over 20 % of the fibers. Fibrosis and fatty degeneration: –, no fibrosis, fatty degeneration; +, mildly increased; ++, moderately increased