Neuromuscular

Congenital Muscular Dystrophy (MDDGB5; FKRP mutations)



H & E stain

 

 
Myopathy: Mild active & chronic changes
  Necrosis & Regeneration: Scattered
  Fiber size: Varied
    Small fibers: Rounded
  Endomysial connective tissue: Normal or Slightly increased
  Internal nuclei: Some fibers


ATPase pH 9.4
Type I fiber predominance

ATPase pH 4.3
Scattered 2C fibers

NADH stain
Type I fiber predominance; Necrotic fiber (arrow)


α Dystroglycan
FKRP mutations:
  Absent α-Dystroglycan around muscle fibers

α Dystroglycan
Control muscle:
  Normal α-Dystroglycan around muscle fibers


Desmin stain
Desmin stains cytoplasm in small regenerating fibers

MHC Class I stain
MHC-I is abnormally present on clusters of muscle fibers


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11/14/2011