A possible role for electron microscopy in detection of carriers of Duchenne type muscular dystrophy.
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.
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D001219:Aspartate Aminotransferases / Q000097:blood; D002467:Cell Nucleus; D002648:Child; D003402:Creatine Kinase / Q000097:blood; D005260:Female; D005796:Genes; D006801:Humans; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008247:Lysosomes; D008297:Male; D008854:Microscopy, Electron; D008875:Middle Aged; D008931:Mitochondria, Muscle; D009132:Muscles / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D010375:Pedigree; D012519:Sarcoplasmic Reticulum
D007770:L-Lactate Dehydrogenase; D001219:Aspartate Aminotransferases; D003402:Creatine Kinase; D000469:Alkaline Phosphatase