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A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy
  1. A. K. Afifi2,
  2. R. A. Bergman,
  3. H. Zellweger
  1. Department of Human Morphology, School of Medicine, American University of Beirut, Lebanon, U.S.A.
  2. The Department of Anatomy, Johns Hopkins School of Medicine, Baltimore, U.S.A.
  3. The Department of Pediatrics, School of Medicine, University of Iowa, Iowa City, Iowa, U.S.A.

    Abstract

    Five carriers of the gene of Duchenne type muscular dystrophy are described. Muscle histology was minimally to moderately abnormal in two and normal in three. Electron microscopy was abnormal in all five and showed massive aggregates of subsarcolemmal mitochondria, paracrystalline mitochondria, Z line streaming, central nuclei, dilated sacs of sarcoplasmic reticulum, focal loss of myofilaments, and lipid lysosome bodies. The electron microscopic literature on the carrier state is reviewed and analysed. The possible role of electron microscopy in detection of carriers is discussed.

    https://doi.org/10.1136/jnnp.36.4.643

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      Footnotes

      • ↵2 Address for reprints: Dr. Adel K. Afifi, Department of Human Morphology, American University of Beirut, Beirut, Lebanon.

      • ↵1 Supported by grant no. 18-5104 from the Medical School Research Fund, American University of Beirut. (A.K.A.), grant no. 38-1716 from the Common Wealth Fund and grant no. NIH (NINDS) NBO4096 from the Public Health Service (RAB).