Silver M M, Gilbert J J, Stewart S, Brabyn D, Jung J
Hum Pathol. 1986 Nov;17(11):1167-78. doi: 10.1016/s0046-8177(86)80423-3.
The X-linked form of myotubular myopathy is highly lethal in neonates. Several autopsy-derived muscles from two probands of a new kindred who survived for 100 days because of intensive supportive care were analyzed by light microscopy, morphometry, enzyme histochemistry, and electron microscopy. The results were compared with a similar analysis of muscle from control fetal and neonatal subjects. The findings, in addition to the characteristic centronucleated hypotrophic myofibers, included widespread myofiber degeneration and focal contraction band necrosis that differed from the types seen in other myopathic and dystrophic muscle diseases. A high frequency of degenerating nuclei that often contained large nucleoli was observed. Because of the paradoxic nuclear morphology, nuclear failure (in migration and myofibrillogenesis) is believed to be of central importance in the pathogenesis of this disease.
X连锁型肌管性肌病在新生儿中具有高度致死性。对一个新家族中两名因强化支持治疗存活了100天的先证者的几块尸检所得肌肉进行了光学显微镜检查、形态测量、酶组织化学和电子显微镜检查。将结果与对照胎儿和新生儿的肌肉进行类似分析的结果进行比较。除了特征性的中心核性萎缩肌纤维外，研究结果还包括广泛的肌纤维变性和局灶性收缩带坏死，这些与其他肌病性和营养不良性肌肉疾病中所见的类型不同。观察到高频率的退化细胞核，这些细胞核通常含有大核仁。由于矛盾的核形态，核功能障碍（在迁移和肌原纤维形成方面）被认为在该疾病的发病机制中至关重要。
