Kyriacou K, Kyriakides T
Department of Electron Microscopy-Molecular Pathology, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
J Submicrosc Cytol Pathol. 2006 Jun-Sep;38(2-3):201-8.
Mitochondrial encephalomyopathies (MEs) are a group of clinically and genetically heterogeneous diseases. They can be caused by defects in both mitochondrial or nuclear coded genes. Their phenotypic expression is governed by unique biological phenomena such as the dual genetic control, mitotic segregation, heteroplasmy and threshold effects. Currently, the correct diagnosis of ME relies on a multidisciplinary approach which includes clinical information as well as laboratory data from muscle morphology, biochemistry and molecular genetics. Among the morphological methods, histology, histochemistry and electron microscopy were historically instrumental in the diagnosis of MEs. However, with the development of molecular genetics, the diagnostic value of morphology and of electron microscopy in particular have been questioned. The aim of the present review is to present a comparative assessment of the diagnostic contribution of histology, histochemistry and electron microscopy in a group of 48 patients with a diagnosis of ME.
线粒体脑肌病（MEs）是一组临床和遗传异质性疾病。它们可由线粒体编码基因或核编码基因的缺陷引起。其表型表达受独特的生物学现象支配，如双重遗传控制、有丝分裂分离、异质性和阈值效应。目前，ME的正确诊断依赖于多学科方法，包括临床信息以及来自肌肉形态学、生物化学和分子遗传学的实验室数据。在形态学方法中，组织学、组织化学和电子显微镜在历史上对ME的诊断起了重要作用。然而，随着分子遗传学的发展，形态学尤其是电子显微镜的诊断价值受到了质疑。本综述的目的是对48例诊断为ME的患者进行组织学、组织化学和电子显微镜诊断贡献的比较评估。
