Afifi A K, Bergman R A, Zellweger H
J Neurol Neurosurg Psychiatry. 1973 Aug;36(4):643-50. doi: 10.1136/jnnp.36.4.643.
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.
本文描述了5例杜氏型肌营养不良基因携带者。其中2例肌肉组织学表现为轻度至中度异常,3例正常。所有5例的电子显微镜检查均异常,可见肌膜下线粒体大量聚集、线粒体呈副晶体状、Z线流、中央核、肌浆网囊扩张、肌丝局灶性缺失以及脂质溶酶体小体。本文对有关携带者状态的电子显微镜文献进行了综述和分析。讨论了电子显微镜在携带者检测中的可能作用。