Titin Myopathies
|
Dominant Recessive |
Titin Myopathy: Recessive, Fiber type size disproportion
1 year old female
 H&E stain Muscle fibers Size: Varied Internal nuclei |
 H&E stain |
Some are very small
A few have central nuclei
 H&E stain |
Fiber size: Varied
 Gomori trichrome stain |
 VvG stain |
Varied
Some regions have more very small fibers than others
 VvG stain |
Vessels: Normal structure
 VvG stain |
 NADH stain |
 NADH stain |
 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 |
Mitochondria: Normal
 SDH stain |
Muscle fiber cytoplasm: Some muscle fibers have diffuse staining or small aggregates
 AMPDA stain |
Desmin: Small muscle fibers are darker stained
 Desmin stain |
Titin Myopathy: Dominant, Cytoplasmic Aggregates
12 year old female: Titin mutation G25588RChronic myopathy
Muscle fiber size: Varied
Perimysial connective tissue: Replaced by fat
 H& E stain |
 H& E stain |
Aggregates
Nuclei: Large & Irregular
Size: Varied
 H& E stain |
 Congo red stain |
 Congo red stain |
Cytoplasmic Aggregate
 Gomori trichrome stain |
 VvG stain |
Shapes: Varied
 VvG stain |
Cytoplasmic Aggregates: Stain for desmin
 Desmin stain |
Cytoplasmic Aggregates: Smudged internal architecture
 NADH stain |
Internal architecture, Other fibers: Irregular
 NADH stain |
 AMPDA stain |
 AMPDA stain |
Cytoplasmic granules: Acid phosphatase stained
 Acid phosphatase stain |
Type I muscle fiber prodominance
 ATPase pH 4.3 stain |
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3/21/2016