EMERY-DREIFUSS MUSCULAR DYSTROPHY 1 (EMD1)
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Affected males Carrier female |
Affected Males
 H & E stain |
Moderately affected muscle (Above)
Fiber sizes: Varied
Internal nuclei
Severely affected muscle (Below)
Perimysial connective tissue: Replacement by fat
Endomysial connective tissue: Increased between muscle fibers
Fiber sizes: Varied
 H & E stain |
 VvG stain |
 H & E stain |
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Myopathy Bimodal variation of fiber size Small fibers: Rounded Large fibers: Hypertrophied Increased endomysial connective tissue Internal nuclei: Some fibers |
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 H & E stain |
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 Gomori trichrome stain |
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Chronic myopathy Varied fiber size Increased endomysial connective tissue Replacement of muscle by fat |
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 ATPase ph 9.4 stain |
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Fiber type abnormalities Small type 1 (Left) Type 1 predominance (Right) |
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 NADH stain |
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Abnormal internal architecture |
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 Gomori trichrome stain |
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 VvG stain |
 Congo red stain |
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Emerin Stain
Normal muscle
Emerin stain |
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 Emerin stain |
Muscle Fiber Nuclei Subsarcolemmal Stain for emerin |
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Emerin: Normal muscle Emerin protein: Present in varied amounts in different nuclei Myonuclei, Subsarcolemmal: Abundant emerin (Green; Yellow arrow) Capillary nuclei: Little emerin (Blue; White arrow) Muscle fiber sarcolemma: Dystrophin (Red)  Emerin - Green; DAPI - Blue; Dystrophin - Red |
EDMD muscle: No emerin staining of nuclei
 Emerin stain |
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 Emerin stain |
Muscle Fiber Nuclei No emerin staining |
Manifesting Carrier (Female)  H & E stain |
 H & E stain |
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Muscle fiber size: Variable Small fibers Rounded Some basophilic regenerating Large fibers: Hypertrophied. Internal nuclei: Some fibers Connective tissue: Mild increase  NADH |
 Gomori trichrome |
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Abnormal internal architecture |
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Fiber type disorder Most small fibers are type I Larger fibers are type I & II  ATPase, pH 9.4 |
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 Emerin immunohistochemistry |
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Only some myonuclei stain for emerin. Emerin staining of nuclei is non-random and patchy. Some muscle fibers have many nuclei with emerin. Other muscle fibers have no nuclei with emerin. |
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8/27/2024