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Myopathy with DNAJB6 mutations (LGMD 1 D)

Aggregate stains Muscle fibers Fiber types Other changes Vacuoles

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DNAJB6: Myopathic changes

H&E stain

Myopathy: Varied involvement in neighboring fascicles

VvG stain

Small fibers in Clusters

NADH stain

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Muscle fibers: Varied sizes

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.

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DNAJB6 myopathy: Vacuoles in large & small muscle fibers
H&E stain	H&E stain

H&E stain

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Gomori trichrome stain

Gomori trichrome stain

Gomori trichrome stain

Gomori trichrome stain

Vacuoles with pink granular contents

Gomori trichrome stain

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VvG stain

Congo red stain

Vacuoles associated with basophilic granular debris

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DNAJB6 myopathy: Aggregates in muscle fibers

AMPDA stain Irregular aggregates: May be associated with vacuoles

AMPDA stain

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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