Tritschler H J, Bonilla E, Lombes A, Andreetta F, Servidei S, Schneyder B, Miranda A F, Schon E A, Kadenbach B, DiMauro S
Department of Neurology, Columbia University, College of Physicians and Surgeons, New York, NY 10032.
Neurology. 1991 Feb;41(2 ( Pt 1)):300-5. doi: 10.1212/wnl.41.2_part_1.300.
To differentiate the 2 major myopathies of infancy due to cytochrome c oxidase (COX) deficiency, we studied muscle biopsies from 4 patients with fatal myopathy and 4 with benign myopathy using biochemical, histochemical, and immunohistochemical techniques. Immunohistochemistry with antibodies directed against individual subunits of COX differentiated the 2 phenotypes: the fatal infantile myopathy was characterized by absence of the nuclear DNA (nDNA)-encoded subunit VIIa,b of COX, while in the benign myopathy both VIIa,b and the mitochondrial DNA (mtDNA)-encoded subunit II were absent. Early differential diagnosis between fatal and benign COX-deficient myopathies is of critical importance for prognosis and management of these infants, because the benign form is initially life-threatening but ultimately reversible.
为鉴别因细胞色素c氧化酶（COX）缺乏导致的两种主要婴儿期肌病，我们使用生化、组织化学和免疫组织化学技术，研究了4例患有致命性肌病的患者和4例患有良性肌病的患者的肌肉活检样本。用针对COX各个亚基的抗体进行免疫组织化学鉴别出了这两种表型：致命性婴儿期肌病的特征是缺乏COX的核DNA（nDNA）编码的亚基VIIa,b，而在良性肌病中，VIIa,b和线粒体DNA（mtDNA）编码的亚基II均缺失。对致命性和良性COX缺乏性肌病进行早期鉴别诊断对这些婴儿的预后和治疗至关重要，因为良性形式最初会危及生命，但最终是可逆的。
