Martin J J, Ceuterick C, Van Goethem G
Born-Bunge Foundation, Wilrijk, Belgium.
Neuromuscul Disord. 1997 Dec;7(8):512-20. doi: 10.1016/s0960-8966(97)00119-3.
A 19-year-old patient presented with exercise-related myalgia, fatigue and elevated creatine kinase levels. Histology of a muscle biopsy was characterized by the presence of very large amounts of tubular aggregates. Both his father and paternal grandfather had elevated creatine kinase and large amounts of tubular aggregates in their muscle biopsies. The aggregates consisted of closely packed vesicles and tubules filled with electron-dense material or with one to several smaller tubules. Disorders with tubular aggregates in the muscle fibres such as hyperornithinaemia with gyrate atrophy of the retina, hypokalaemic periodic paralysis, hyperkalaemic periodic paralysis, myotonia congenita, alcoholism, osteomalacic myopathy etc. have been excluded. Tubular aggregates can be found in muscle disorders characterized by exercise-induced cramps, pain and stiffness. They also represent the predominant histological feature of some familial myopathies due to a yet unidentified genetic defect. In our family, there was male-to-male transmission, confirming dominant inheritance.
一名19岁患者出现与运动相关的肌痛、疲劳和肌酸激酶水平升高。肌肉活检的组织学特征是存在大量管状聚集物。他的父亲和祖父的肌肉活检中肌酸激酶均升高且有大量管状聚集物。这些聚集物由紧密排列的囊泡和充满电子致密物质或含有一到几条较小小管的小管组成。已排除肌肉纤维中有管状聚集物的疾病，如伴有视网膜回旋状萎缩的高鸟氨酸血症、低钾性周期性麻痹、高钾性周期性麻痹、先天性肌强直、酒精中毒、骨软化性肌病等。管状聚集物可见于以运动诱发的痉挛、疼痛和僵硬为特征的肌肉疾病。它们也是一些由于尚未明确的基因缺陷导致的家族性肌病的主要组织学特征。在我们家族中，呈现男性对男性的传递，证实为显性遗传。
