LGMD 2L (R12): Anoctamin 5 mutations
![](../pics/biopsy/lgd/ano5/ano5bhelp.jpg)
H&E stain
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ANO5 myopathy
Fiber sizes: Varied
Clusters of small fibers
![](../pics/biopsy/lgd/ano5/ano5batp94.jpg)
ATPase pH 9.4 stain
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![](../pics/biopsy/lgd/ano5/ano5batp43.jpg)
ATPase pH 4.3 stain
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ANO5 myopathy
Many immature type 2C muscle fibers
![](../pics/biopsy/lgd/ano5/ano5bhelp2.jpg)
H&E stain
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ANO5 myopathy
Fiber sizes
Varied; Clusters of small fibers
Necrosis & Regeneration
![](../pics/biopsy/lgd/ano5/ano5help.jpg)
H&E stain
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ANO5 myopathy
Fiber size: Varied; Hypertrophy; Nuclear clumps
ANO5: Chronic
![](../pics/biopsy/lgd/ano5/ano5hevlp.jpg)
H&E stain
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ANO5 myopathy
Fiber size: Varied
Endomysial connective tissue: Increased
Perimysium: Replaced by fat
![](../pics/biopsy/lgd/ano5/ano5bcrlp.jpg)
Congo red stain
|
![](../pics/biopsy/lgd/ano5/ano5gtmp.jpg)
Gomori trichrome stain
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ANO5 myopathy
Fiber size: Varied
Endomysial connective tissue: Increased
![](../pics/biopsy/lgd/ano5/ano5hemp2.jpg)
H&E stain
|
![](../pics/biopsy/lgd/ano5/ano5ampda.jpg)
AMPDA stain
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ANO5 myopathy
Fiber size: Varied
Internal architecture: Irregular
ANO5: Necrosis
![](../pics/biopsy/lgd/ano5/ano5hemp.jpg)
H&E stain
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ANO5 myopathy
Fiber size: Varied
Necrosis & Regeneration
![](../pics/biopsy/lgd/ano5/ano5bactmyop.jpg)
H&E stain
|
![](../pics/biopsy/lgd/ano5/ano5bnec3.jpg)
H&E stain
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ANO5 myopathy
Early necrosis
Muscle fiber cytoplasm: Pale
Fibers invaded by few histiocytes
![](../pics/biopsy/lgd/ano5/ano5bnec2.jpg)
H&E stain
|
![](../pics/biopsy/lgd/ano5/ano5bneche.jpg)
H&E stain
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ANO5 myopathy
Necrosis
Muscle fibers: Replaced by histiocytic cells
![](../pics/biopsy/lgd/ano5/ano5bnecacp.jpg)
Acid phosphatase stain
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ANO5: Regeneration
![](../pics/biopsy/lgd/ano5/ano5bcrregen.jpg)
Congo red stain
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ANO5 myopathy
Regenerating Muscle fibers
Basophilic cytoplasm
Large nu;clei
![](../pics/biopsy/lgd/ano5/ano5bcrregen2.jpg)
Congo red stain
|
![](../pics/biopsy/lgd/ano5/ano5bgthp.jpg)
Gomori trichrome stain
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ANO5: Partial fusion of muscle fibers (Splitting; Branching)
![](../pics/biopsy/lgd/ano5/ano5bsplit.jpg)
H&E stain
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ANO5 myopathy
Partially fused muscle fibers: Split across part of fiber
![](../pics/biopsy/lgd/ano5/ano5bvvgsplit.jpg)
VvG stain
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![](../pics/biopsy/lgd/ano5/ano5bnadh5.jpg)
NADH stain
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ANO5 myopathy
Partially fused muscle fibers: Split across part of fiber
![](../pics/biopsy/lgd/ano5/ano5bpas.jpg)
PAS stain
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ANO5: Amyloid
![](../pics/biopsy/lgd/ano5/ano5cranim.gif)
Congo red stain
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ANO5 myopathy
Amyloid: Birefringent; Deposited in vessel wall
ANO5: Blebs & Vacuoles
![](../pics/biopsy/lgd/ano5/ano5bnadh4.jpg)
NADH stain
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ANO5 myopathy
Subsarcolemmal blebs
![](../pics/biopsy/lgd/ano5/ano5bvacvvg.jpg)
VvG stain
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ANO5 myopathy
Cytoplasmic vacuoles
![](../pics/biopsy/lgd/ano5/ano5bvachp2.jpg)
VvG stain
|
![](../pics/biopsy/lgd/ano5/ano5bvacest.jpg)
Esterase stain
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ANO5: Aggregates & Abnormal internal architecture
![](../pics/biopsy/lgd/ano5/ano5bgtmp.jpg)
Gomori trichrome stain
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ANO5 myopathy
Fibers with clustered, irregular internal architecture
![](../pics/biopsy/lgd/ano5/ano5bcrdeg.jpg)
Congo red stain
|
![](../pics/biopsy/lgd/ano5/ano5bvvgvac.jpg)
VvG stain
|
ANO5 myopathy
Fibers with clustered, irregular internal architecture
![](../pics/biopsy/lgd/ano5/ano5bnadh.jpg)
NADH stain
|
![](../pics/biopsy/lgd/ano5/ano5bnadh6.jpg)
NADH stain
|
![](../pics/biopsy/lgd/ano5/ano5bsdh.jpg)
SDH stain
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ANO5 myopathy
Fibers with cytoplasmic aggregates
![](../pics/biopsy/lgd/ano5/ano5cav3.jpg)
Caveolin-3 stain
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![](../pics/biopsy/lgd/ano5/ano5agg1.jpg)
From: R Schmidt
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ANO5: Aggregates in muscle fibers
![](../pics/biopsy/lgd/ano5/ano5agghp.jpg)
From: R Schmidt
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![](../pics/biopsy/lgd/ano5/ano5surfmembcsm.jpg)
From: R Schmidt
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ANO5: Surface membrane & Basal lamina irregularities
Similar to:
Dysferlin
![](../pics/biopsy/lgd/ano5/ano5surfmembcsm3.jpg)
From: R Schmidt
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ANO5: Surface membrane & Basal lamina irregularities
![](../pics/biopsy/lgd/ano5/ano5surfmembcsm2.jpg)
From: R Schmidt
|
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12/18/2023