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ACTA1 Mutations: Congenital Fiber Type Size Disproportion

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Fiber size: Varied, Bimodal distribution
Nuclei: Irregular shapes

H&E stain

Nuclei: Irregular shapes Congo red stain

Type 1 muscle fibers (Pale-stained) are smaller than type 2 fibers ATPase pH 9.4 stain

Few scattered type 2C muscle fibers ATPase pH 4.3 stain

Varied muscle fiber size No rods Gomori trichrome stain

Vessels: Immature with few fibrils VvG stain

Internal architecture: Normal for age 7 months NADH stain

Normal cytochrome oxidase staining COX stain

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3/21/2016