杆状体肌病和心肌病。
Nemaline myopathy and cardiomyopathy.
作者信息
Skyllouriotis M L, Marx M, Skyllouriotis P, Bittner R, Wimmer M
机构信息
Department of Pediatric Cardiology, University of Vienna, Austria.
出版信息
Pediatr Neurol. 1999 Apr;20(4):319-21. doi: 10.1016/s0887-8994(98)00158-1.
A case report is presented in which a 4-year-old male is diagnosed with hypertrophic cardiomyopathy, respiratory distress, muscle hypotonia, and psychomotor retardation. Electron microscopic study of skeletal muscle biopsy revealed pathologic changes typical of congenital nemaline myopathy, and biochemical analysis revealed a disorder of mitochondrial fatty acid oxidation. Therefore a previously undescribed combination of a structural and metabolic myopathy is reported.
本文报告了一例病例，一名4岁男性被诊断为肥厚型心肌病、呼吸窘迫、肌张力减退和精神运动发育迟缓。对骨骼肌活检进行的电子显微镜研究显示出先天性杆状肌病的典型病理变化，生化分析显示出线粒体脂肪酸氧化紊乱。因此，报告了一种先前未描述的结构性和代谢性肌病的组合。
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