一种伴有凋亡改变的新型先天性肌病。

A novel congenital myopathy with apoptotic changes.

作者信息

Ikezoe K, Yan C, Momoi T, Imoto C, Minami N, Ariga M, Nihei K, Nonaka I

机构信息

Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.

出版信息

Ann Neurol. 2000 Apr;47(4):531-6.

PMID:10762169

Abstract

We report on a female child with congenital myopathy with delayed developmental milestones and mental retardation. The most striking pathological finding was the presence of many condensed to fragmented myonuclei. DNA fragmentation was confirmed by the TUNEL method and supported by the ultrastructural characteristics of apoptotic nuclear changes. We also demonstrated immunohistochemically the activation of caspase-3 and caspase-9. This appears to be the first reported case of congenital myopathy with apoptotic process.

摘要

我们报告了一名患有先天性肌病的女童，其发育里程碑延迟且存在智力障碍。最显著的病理发现是存在许多浓缩至碎片化的肌细胞核。DNA碎片化通过TUNEL法得到证实，并得到凋亡核变化的超微结构特征的支持。我们还通过免疫组织化学方法证实了caspase-3和caspase-9的激活。这似乎是首例报道的伴有凋亡过程的先天性肌病病例。