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Severe neonatal myotonic dystrophy (quadriceps femoris muscle biopsy) (4)

Electron microscopy confirms that some small fibers have central nuclei and others have concentrations of normal mitochondria in the central core of the fiber. Myofibrils are sparse but well formed. Lipid droplets are abundant. (Reproduced with permission from: Sarnat HB, O’Connor T, Byrne PA. Clinical effects of myotonic dystrophy on pregnancy and the neonate. Arch Neurol 1976;33:459-65. Copyrighted 1976, American Medical Assoc.)

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Associated Disorders

  • Steinert disease, neonatal form
  • congenital myopathies
  • myotonic disorders