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March 1968

Myotubular Myopathy

Author Affiliations

From the departments of neurology and pediatrics, University of Pennsylvania School of Medicine and the Children's Hospital of Philadelphia.

Arch Neurol. 1968;18(3):265-271. doi:10.1001/archneur.1968.00470330055005

IN 1966 Spiro et al1 reported an unusual myopathy in an adolescent boy with facial diplegia, external ocular palsy, and symmetrical muscle weakness. Since the morphological changes in the muscle biopsy resembled myotubes, the disease was named "myotubular myopathy." Recently Sher et al2 reported two siblings with similar pathological features. In this paper the clinical and pathological findings in another case are presented. In addition, the histological and cytological findings in muscle from three fetuses are described.

Methods  Biopsy specimens were removed from the quadriceps femoris muscle of the patient in July and October 1966. On both occasions one muscle block was fixed in Bouin's solution, and another was frozen in isopentane cooled to —160 C by liquid nitrogen. The fixed sections were stained with hematoxylin and eosin, hematoxylin van Giesen, Gomori trichrome, PAS, Feulgen stain, and Lillie's allochrome techniques. The frozen sections were studied for

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