神经肌肉性疾病的病理与血液PCR检测线粒体DNA缺失分析

PCR analysis of mitochondrial DNA deletion in children with neuromuscular diseases

目的 :探讨神经肌肉性疾病的临床表现与病理、血液 PCR检测之间的关系。 方法 :采用肌肉活检病理检查与血液 PCR检测有无线粒体脱氧核糖核酸 ( mt DNA)缺失的方法 ,对 2 0例神经肌肉性疾病患儿进行临床分析研究。 结果 :神经肌肉性疾病主要表现为肌无力 ,肌肉病理检查多为非特异性的肌萎缩、肌营养不良改变 ,血 PCR分析发现 6例有 mt DNA缺失。 结论 :神经肌肉性疾病病因复杂、表现多样 ,肌肉病理改变是该病发生的结果而不是原因 ,血液

Objectives: To investigate the relationship between the clinic symptoms of neuromuscular diseases and muscle pathologic and mitochondrial DNA(mtDNA). Methods: 20 cases of neuromuscular diseases patients were analysed clinically by pathological biopsying in patients skeletal muscle and detecting whether existing mtDNA deletion by PCR assay. Results: The main clinical characteristics of neuromuscular diseases was muscle weakness,the results of muscle pathologic checking were atrophy not particularly and variation of malnutrition.It was detected existing mt DNA deletion in 6 cases by PCR assay. Conclusions:Neuromuscular diseases were complex on the pathogeny and varied on clinical characteristics. The changes of skeletal muscles were the result, not the cause of this diseases. The blood detecting with PCR method was of value to diagnose the mtDNA muscle disorders.