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School of Myology - Workshop - Class 2002

Case No.6

Clinical Setting

Male adult. 30 yo. Delayed motor milestones. Difficulties in walking and running. Normal CK.

Pathology

Microscopy

  

HE and Gomori stains show fibers varying in size, rounded, slightly angulated.

 

  

Frozen sections stained with NADH deshydrogenase, and SDH: nearly al fibers show areas of central clearing (core) and enzymatic activity is absent from all cores.

 

Enzymatic fiber typing seems absent with ATPase at different pH.

 

Proposed diagnosis

Congenital myopathy: Central core disease.

 

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