Affected male
Carrier female

Affected Males

H & E stain

  Bimodal variation of fiber size
    Small fibers: Rounded
    Large fibers: Hypertrophied
  Increased endomysial connective tissue
  Internal nuclei: Some fibers

H & E stain


Gomori trichrome stain

Chronic myopathy
  Varied fiber size
  Increased endomysial connective tissue
  Replacement of muscle by fat

ATPase ph 9.4 stain

Fiber type abnormalities
  Small type 1 (Left)
  Type 1 predominance (Right)

NADH stain

Abnormal internal architecture

Gomori trichrome stain


VvG stain
Vacuoles in muscle fibers: In some patients

Congo red stain

Normal muscle

Emerin stain
EDMD muscle

Emerin stain
Muscle fiber nuclei,
  subsarcolemmal, are stained
No emerin staining
in myonuclei

Normal muscle
  Emerin is present in varied amounts in different nuclei
    Subsarcolemmal myonuclei have abundant emerin (Green; Yellow arrow)
    Capillary nuclei have little emerin (Blue; White arrow)
  Dystrophin stains muscle fiber sarcolemma (Red)

Emerin - Green; DAPI - Blue; Dystrophin - Red

Manifesting Carrier (Female)


H & E stain

H & E stain
Muscle fiber size: Variable
Small fibers
  Some basophilic regenerating
Large fibers: Hypertrophied.
Internal nuclei: Some fibers
Connective tissue: Mild increase


Gomori trichrome
Abnormal internal architecture

Fiber type disorder
  Most small fibers are type I
  Larger fibers are type I & II

ATPase, pH 9.4


Emerin immunohistochemistry
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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