Neuromuscular

LGMD 2L (R12): Anoctamin 5 mutations

Amyloid
Internal architecture
  Aggregates
  Partial fiber fusion (Splitting)
  Vacuoles & Blebs
Myopathy
  Chronic
  Fiber sizes: Varied
  Necrosis
  Regeneration


H&E stain
ANO5 myopathy
  Fiber size: Varied

ATPase pH 9.4 stain

ATPase pH 4.3 stain
ANO5 myopathy
  Many immature type 2C muscle fibers


H&E stain
ANO5 myopathy
  Fiber size: Varied
  Necrosis & Regeneration

H&E stain

ANO5 myopathy
  Fiber size: Varied; Hypertrophy; Nuclear clumps

ANO5: Chronic


H&E stain
ANO5 myopathy
  Fiber size: Varied
  Endomysial connective tissue: Increased
  Perimysium: Replaced by fat

Congo red stain

Gomori trichrome stain
ANO5 myopathy
  Fiber size: Varied
  Endomysial connective tissue: Increased

H&E stain

AMPDA stain
ANO5 myopathy
  Fiber size: Varied
  Internal architecture: Irregular

ANO5: Necrosis


H&E stain
ANO5 myopathy
  Fiber size: Varied
  Necrosis & Regeneration

H&E stain


H&E stain
ANO5 myopathy
  Early necrosis
    Muscle fiber cytoplasm: Pale
    Fibers invaded by few histiocytes

H&E stain

H&E stain
ANO5 myopathy
  Necrosis
    Muscle fibers: Replaced by histiocytic cells

Acid phosphatase stain

ANO5: Regeneration


Congo red stain
ANO5 myopathy
  Regenerating Muscle fibers
    Basophilic cytoplasm
    Large nu;clei

Congo red stain

Gomori trichrome stain

ANO5: Partial fusion of muscle fibers (Splitting; Branching)


H&E stain
ANO5 myopathy
  Partially fused muscle fibers: Split across part of fiber

VvG stain

NADH stain
ANO5 myopathy
  Partially fused muscle fibers: Split across part of fiber

PAS stain

ANO5: Amyloid


Congo red stain
ANO5 myopathy
  Amyloid: Birefringent; Deposited in vessel wall

ANO5: Blebs & Vacuoles


NADH stain
ANO5 myopathy
  Subsarcolemmal blebs


VvG stain
ANO5 myopathy
  Cytoplasmic vacuoles

VvG stain

Esterase stain

ANO5: Aggregates & Abnormal internal architecture


Gomori trichrome stain
ANO5 myopathy
  Fibers with clustered, irregular internal architecture

Congo red stain

VvG stain
ANO5 myopathy
  Fibers with clustered, irregular internal architecture

NADH stain

NADH stain


SDH stain
ANO5 myopathy
  Fibers with cytoplasmic aggregates

Caveolin-3 stain

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11/11/2018