Titin Myopathies
1 year old female
![](../pics/biopsy/titin/titinrechelp.jpg)
H&E stain
Muscle fibers
Size: Varied
Internal nuclei
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![](../pics/biopsy/titin/titinrechehp.jpg)
H&E stain
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Muscle fibers
Some are very small
A few have central nuclei
![](../pics/biopsy/titin/titinrechehp2.jpg)
H&E stain
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Fiber size: Varied
![](../pics/biopsy/titin/titinrecgt.jpg)
Gomori trichrome stain
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![](../pics/biopsy/titin/titinrecvvg1.jpg)
VvG stain
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Fiber size
Varied
Some regions have more very small fibers than others
![](../pics/biopsy/titin/titinrecvvg2.jpg)
VvG stain
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Vessels: Normal structure
![](../pics/biopsy/titin/titinrecvvgvess.jpg)
VvG stain
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![](../pics/biopsy/titin/titinrecnadh.jpg)
NADH stain
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Internal architecture: Smudged, & diffusely stained, in some small muscle fibers
![](../pics/biopsy/titin/titinrecnadh2.jpg)
NADH stain
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![](../pics/biopsy/titin/titinrecatp94.jpg)
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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![](../pics/biopsy/titin/titinrecatp43.jpg)
ATPase pH 4.3 stain
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Mitochondria: Normal
![](../pics/biopsy/titin/titinrecsdh.jpg)
SDH stain
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Muscle fiber cytoplasm: Some muscle fibers have diffuse staining or small aggregates
![](../pics/biopsy/titin/titinrecampda.jpg)
AMPDA stain
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Desmin: Small muscle fibers are darker stained
![](../pics/biopsy/titin/titinrecdes.jpg)
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
![](../pics/biopsy/titin/titindomhelp.jpg)
H& E stain
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![](../pics/biopsy/titin/titindomhehp1.jpg)
H& E stain
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Muscle fibers
Aggregates
Nuclei: Large & Irregular
Size: Varied
![](../pics/biopsy/titin/titindomhehp2.jpg)
H& E stain
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![](../pics/biopsy/titin/titindomcrhp.jpg)
Congo red stain
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Myonuclei: Irregular Shapes; Large
![](../pics/biopsy/titin/titindomcrvhp.jpg)
Congo red stain
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Cytoplasmic Aggregate
![](../pics/biopsy/titin/titindomgthp.jpg)
Gomori trichrome stain
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![](../pics/biopsy/titin/titindomvvghp.jpg)
VvG stain
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Cytoplasmic Aggregates
Shapes: Varied
![](../pics/biopsy/titin/titindomvvgvhp.jpg)
VvG stain
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Cytoplasmic Aggregates: Stain for desmin
![](../pics/biopsy/titin/titindomdes.jpg)
Desmin stain
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Cytoplasmic Aggregates: Smudged internal architecture
![](../pics/biopsy/titin/titindomnadhvhp.jpg)
NADH stain
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Internal architecture, Other fibers: Irregular
![](../pics/biopsy/titin/titindomnadh1.jpg)
NADH stain
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![](../pics/biopsy/titin/titindomampda1.jpg)
AMPDA stain
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Cytoplasmic aggregates
![](../pics/biopsy/titin/titindomampda2.jpg)
AMPDA stain
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Cytoplasmic granules: Acid phosphatase stained
![](../pics/biopsy/titin/titindomacp.jpg)
Acid phosphatase stain
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Type I muscle fiber prodominance
![](../pics/biopsy/titin/titindomatp43.jpg)
ATPase pH 4.3 stain
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Titin disorders:
Dominant; Recessive
3/21/2016