Aminoacylase 1 deficiency
Jan. 03, 2022
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Limb-girdle muscular dystrophy type 2D, caused by alpha sarcoglycan (adhalin) deficiency. Severe dystrophic changes with muscle fiber necrosis (arrow), variation of fiber sizes and increased endomysial and perimysial connective tissue. There are multiple hypercontracted fibers (arrowheads). Modified Gomori trichrome stain. (Contributed by Dr. Andrew Waclawik.)