Neuromuscular

Myopathy with DNAJB6 mutations (LGMD 1 D)

Aggregate stains
Muscle fibers
Fiber types
Other changes
Vacuoles


DNAJB6: Myopathic changes


Muscle fibers: Varied size

H&E stain
Large and small rounded muscle fibers. Fibers with vacuoles. Some internal nuclei,


Gomori trichrome stain
Large and small rounded muscle fibers. Some fibers have vacuoles with red stained contents.

Gomori trichrome stain
 

Gomori trichrome stain


VvG stain
Large and small rounded muscle fibers. Some fibers have vacuoles.

Muscle fiber types: Type 1 small; Type 2 predominant


ATPase pH 9.4
Varied fiber size: Type 1 & some Type 2 fibers are small. The largest fibers are Type 2.

DNAJB6: Other


NADH stain
Internal architecture is unremarkable. Small type 1 muscle fibers are dark stained.

VvG stain
Perimysial artery (left), vein (middle) & intramuscular nerve are normal.

Esterase stain
Neuromuscular junctions are multi-segmented.

DNAJB6 myopathy: Vacuoles in large & small muscle fibers


H&E stain

H&E stain



 
   
Gomori trichrome stain
Vacuoles with reddish contents

 
VvG stain
 
Congo red stain
Vacuoles associated with basophilic granular debris

DNAJB6 myopathy: Aggregates in muscle fibers


AMPDA stain
Irregular aggregates: May be associated with vacuoles

AMPDA stain
 


SMI-31
Small & Large SMI-31+ aggregates in muscle fiber (Right)

TDP-43
TDP-43+ aggregates in muscle fiber cytoplasm

TDP-43
Desmin stains cytoplasm in some small muscle fibers but no aggregates.

Caveolin-3
Caveolin-3 is reduced on sarcolemma.

Caveolin-3
Control muscle: Normal caveolin-3 staining.


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2/7/2015