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

IRREGULAR NUCLEAR MORPHOLOGY: Lamin A/C & Sun-2 stain
Congenital MD: Abnormal localization of Sun-2 (Many green myonuclei)

Lamin A/C + Sun-2 stain
Control: Lamin A/C & Sun-2 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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3/5/2014