School of Myology - Workshop - Class
Male adult. 30 yo. Exercise intolerance.
and Gomori stain demonstrate dystrophic
changes (fibrosis, necrosis, regeneration)
deficiency in the expression of alpha and gamma-sarcoglycan, confirmed
by western blotting, and further genetic testing.
Alpha-sarcoglycanopathy consistent with a Limb
Girdle Muscular Dystrophy (LGMD 2D).