Neuromuscular

Myotonia Congenita
CLCN-1: Gly230Glu Mutation, Dominant inheritance (Thomsen Syndrome)
52 year old patient

H&E stain
Muscle fiber morphology: Small, Irrregular-shaped, Clear regions in cytoplasm
Fiber Sizes: Mildly varied

H&E stain

Gomori trichrome stain
Muscle fiber morphology
  Small, Irrregular-shaped or Rounded, Clear regions scatttered in fiber cytoplasm

Gomori trichrome stain

Congo red stain
Muscle fiber morphology
  Small, Irrregular-shaped or Rounded, Clear regions scatttered in fiber cytoplasm

VvG stain
Muscle fiber morphology
  A few fibers have dark-stained punctate regions in cytoplasm

NADH stain
Muscle fibers: Internal architecture
  Darker (Type 1) fibers: Punctate or Irregular linear staining
  Lighter (Type 2) fibers: Linearization of internal architecture

NADH stain

NADH stain

ATPase pH 9.4 stain
Muscle fibers
  Irrregular "cracks": More prominent in type I fibers

ATPase pH 4.3 stain
Muscle fibers
  No 2C fibers

ATPase pH 4.6 stain
Muscle fibers
  Many 2B fibers fibers

Esterase stain
Neuromuscular junctions
  Several patches of esterase staining

Acid phospbhatasestain
Muscle fibers
  No lipofuscin

VvG stain
Muscle spindle
  Unusual feature: Small, thick-walled vessels inside spindle
Myotonia Congenita
CLCN-1: Gly230Glu Mutation, Dominant inheritance (Thomsen Syndrome)
15 year old patient

H&E stain
Muscle fibers
  Varied size
  Few small angular fibers

Gomori trichrome stain
Muscle fibers
  Internal architecture: Prominently stained

VvG stain

NADH stain
Muscle fibers: Internal architecture
  Type 1 fibers: Dark & Continuous (Immature)
  Type 2 fibers: Punctate or Irregular

NADH stain

NADH stain

ATPase pH 9.4 stain
Muscle fibers
  Type 2 fibers: Predominance; Mildly larger than type 1

ATPase pH 4.3 stain

ATPase pH 4.6 stain
Muscle fibers
  Many Type 2B fibers: Larger than other fiber types

Acid phosphatase stain
Muscle fibers
  No lipofuscin
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5/10/2020