Phosphoglycerate Mutase deficiency (GSD 10)
Trp78* mutation
H&E stain
|
Muscle fibers
Size: Normal
Contain:
Tubular aggregates
H&E stain
|
Tubular aggregates
Pink-stained regions on H&E stain
Internal or sub-sarcolemmal
H&E stain
|
Tubular aggregates: Red stained
Gomori trichrome stain
|
VvG stain
|
Tubular aggregates
Dark stained
Irregular shapes
VvG stain
|
VvG stain
|
Tubular aggregates
Dark stained
Irregular shapes
VvG stain
|
NADH stain
|
Tubular aggregates
NADH stained: Composed of SR-like tubules
Irregular shapes
May be small or large
May have several in one muscle fiber
NADH stain
|
NADH stain
|
AMPDA stain
|
Tubular aggregates
Contain AMPDA
AMPDA stain
|
Phosphoglycerate Mutase deficiency
Glycogen: May be increased in muscle fibers
Tubular aggregates: Can stain for PAS
PAS stain
|
Sudan black stain
|
ATPase pH 4.3 stain
|
Glycogen: Membrane bound & Free in cytoplasm
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PGAM
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Tubular aggregates
7/2/2016