Titin Myopathies

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Titin Myopathy: Recessive, Fiber type size disproportion

1 year old female

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H&E stain Muscle fibers   Size: Varied   Internal nuclei

H&E stain

Muscle fibers
  Some are very small
  A few have central nuclei

H&E stain

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Fiber size: Varied

Gomori trichrome stain

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VvG stain

Fiber size
  Varied
  Some regions have more very small fibers than others

VvG stain

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Vessels: Normal structure

VvG stain

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NADH stain

Internal architecture: Smudged, & diffusely stained, in some small muscle fibers

NADH stain

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ATPase pH 9.4 stain Fiber types   Type II: Are the largest   Type I: Many very small   Type IIC fibers: Few; Scattered

ATPase pH 4.3 stain

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Mitochondria: Normal

SDH stain

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Muscle fiber cytoplasm: Some muscle fibers have diffuse staining or small aggregates

AMPDA stain

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Desmin: Small muscle fibers are darker stained

Desmin stain

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10/15/2024