Sasaki T, Shikura K, Sugai K, Nonaka I, Kumagai K
Division of Ultrastructural Research, National Institute of Neuroscience, Tokyo, Japan.
Brain Dev. 1989;11(1):26-32. doi: 10.1016/s0387-7604(89)80005-1.
We report the clinical and histochemical findings in 7 patients with myotubular (centronuclear) myopathy aged from 2 months to 32 years. The clinical symptoms varied from patient to patient. Three patients developed severe muscle weakness and hypotonia with respiratory distress from infancy, and 4 had muscle weakness from 2-5 years of age with no apparent delay in developmental milestones. In addition to an increased number of fibers with centrally placed nuclei, there were 3 other histochemical characteristics of this disorder, i.e., type 1 fiber predominance, type 1 fiber hypotrophy and type 2B fiber deficiency. Other histological findings included a peripheral halo in the sarcoplasm on NADH-TR staining and an increased number of undifferentiated type 2C fibers, indicating a delay in muscle fiber growth and differentiation due to a probable defective neural supply in the developing muscles.
我们报告了7例年龄从2个月至32岁的肌管性（核中心性）肌病患者的临床和组织化学检查结果。临床症状因患者而异。3例患者自婴儿期起出现严重肌无力和肌张力减退并伴有呼吸窘迫，4例患者在2至5岁时出现肌无力，发育里程碑无明显延迟。除了核位于中央的纤维数量增加外，该疾病还有其他3个组织化学特征，即1型纤维占优势、1型纤维萎缩和2B型纤维缺乏。其他组织学发现包括NADH - TR染色时肌浆中的外周晕以及未分化的2C型纤维数量增加，这表明由于发育中的肌肉可能存在神经供应缺陷，导致肌纤维生长和分化延迟。
