抄録
A 13 year-old girl with “Myotubular Myopathy” was reported. The patient was floppy and had general muscular weakness with oculofacial involvement at birth, which subsequently showed no progression. Biopsy of the quadriceps femoral muscle revealed the central nuclei with changes of the peri-central nuclear myofibrils in 82% of type I and 70% of type II fibers. Mean diameter of the fiber in DPNH diaphorase stain was 25 microns in type I and 30 microns in type II. A review of the literature on the reported cases of myotubular myopathy showed a considerable variety in their clinical features and muscular changes with different views concerning the pathogenesis of the disease. Myotube-like changes are prominent in small type I fibers of the most of reported cases, including ours. In the course of myogenesis, type I fibers are slow in maturation and are thought to be fragile.
