Titin Myopathies
1 year old female
H&E stain
Muscle fibers
Size: Varied
Internal nuclei
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H&E stain
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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
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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
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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
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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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12 year old female: Titin mutation G25588R
Chronic myopathy
Muscle fiber size: Varied
Perimysial connective tissue: Replaced by fat
H& E stain
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H& E stain
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Muscle fibers
Aggregates
Nuclei: Large & Irregular
Size: Varied
H& E stain
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Congo red stain
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Myonuclei: Irregular Shapes; Large
Congo red stain
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Cytoplasmic Aggregate
Gomori trichrome stain
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VvG stain
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Cytoplasmic Aggregates
Shapes: Varied
VvG stain
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Cytoplasmic Aggregates: Stain for desmin
Desmin stain
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Cytoplasmic Aggregates: Smudged internal architecture
NADH stain
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Internal architecture, Other fibers: Irregular
NADH stain
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AMPDA stain
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Cytoplasmic aggregates
AMPDA stain
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Cytoplasmic granules: Acid phosphatase stained
Acid phosphatase stain
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Type I muscle fiber prodominance
ATPase pH 4.3 stain
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Titin disorders:
Dominant; Recessive
3/21/2016