Neuromuscular

CONGENITAL MUSCULAR DYSTROPHY (Lamin A/C): Pathology

Congenital muscular dystrophy (Lamin A/C): Myopathic changes

  • Fiber size: Variability; Many moderately small muscle fibers
  • Immature muscle fibers: Internal nuclei; Basophilia
  • Connective tissue: Mildly increased in endomysium

H&E stain
GT stain

H&E stain
H&E stain

Congenital muscular dystrophy (Lamin A/C): Abnormal nuclear morphology

  • Irregular shape (Arrow)
  • Large
  • Irregular emerin staining
  • Abnormal localization of Sun-2 & Lamin A/C

H&E stain
H&E stain
IRREGULAR NUCLEAR MORPHOLOGY: Congo Red


Congo red stain
Congo red stain
IRREGULAR NUCLEAR MORPHOLOGY: Emerin
Congenital MD: Large, irregularly stained nuclei

Emerin stain
 Control: Smaller, dark-stained nuclei

Emerin stain
LAMINOPATHY
  Irregular Nuclear Morphology: Lamin A/C + Sun-2 stain 		Lamin AC Congenital MD
  Abnormal localization of Sun-2 (Many green myonuclei)

Lamin A/C + Sun-2 stain
Control: Lamin A/C (Green) + Sun-2 (Red) co-localized (Yellow)

Lamin A/C + Sun-2 stain
 IBM control: Lamin A/C + Sun-2 co-localized (Yellow)

Lamin A/C + Sun-2 stain

Congenital muscular dystrophy (Lamin A/C):
  Fiber type changes

Type 1 predominance

ATPase pH 9.4 stain
 Many immature (Type 2C) intermediate-staining muscle fibers

ATPase pH 4.3 stain

Congenital muscular dystrophy (Lamin A/C): Muscle fiber morphology

Muscle fibers with irregular structure

VvG stain
Smaller muscle fibers have irregular or coarse internal architecture

NADH stain
NADH stain
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9/9/2020