Zimmermann P, Weber U
Acta Neuropathol. 1979 May 15;46(3):209-14. doi: 10.1007/BF00690846.
In the same family three boys (ages 8, 11, 14 years), suffering from a slowly progressive weakness of the flexors of the head and distal muscle groups of the extremities, were found to have a myopathy characterized by the presence of central nuclei in type I fibres. Their mother showed no histopathologic signs but a myopathic pattern on electromyography could be demonstrated. Cytophotometric examination of the anterior tibial muscle of these siblings revealed a reduction in DNA content by 50% in the central and subsarcolemmal nuclei (haploid DNA content) when compared with subsarcolemmal nuclei (diploid DNA content) of the same muscle of their mother. Nuclear DNA concentration in fibrocytes did not differ significantly between members of the family. Therefore, it is assumed that the nuclei of muscle fibres are selectively affected by the disease process which is indicated by a haploid DNA content.
在同一家族中，三名男孩（年龄分别为8岁、11岁和14岁）患有头部屈肌和四肢远端肌群的缓慢进行性无力，经检查发现患有一种肌病，其特征为I型纤维中存在中央核。他们的母亲没有组织病理学迹象，但肌电图显示有肌病模式。对这些兄弟姐妹的胫前肌进行细胞光度测定检查发现，与他们母亲同一肌肉的肌膜下核（二倍体DNA含量）相比，中央核和肌膜下核的DNA含量减少了50%（单倍体DNA含量）。该家族成员的纤维细胞中的核DNA浓度没有显著差异。因此，可以推测肌纤维的核受到疾病过程的选择性影响，这表现为单倍体DNA含量。
