中国实用神经疾病杂志2017，Vol.20Issue(10)：19-22,4.
Nonaka肌病临床病理及肌肉磁共振特点分析
The clinicopathological characteristics and muscle MRI features of Nonaka myopathy
黄超 1周海涛 1任向阳 1马聪敏1
作者信息
- 1. 郑州大学附属洛阳中心医院神经内科 洛阳 471000
- 折叠
摘要
Abstract
Objective To investigate the characteristics of both clinical pathology and muscle MRI in Nonaka myopathy.Methods The two included patients(one male and one female)who mainly represented weakness and atrophy in both lower limbs as well as slight abnormality in both upper limbs showed mild increase in creatine kinase(CK)level as well as myogenic abnormality and normal nerve conduction velocity observed in electromyogram(EMG).All patients received MRI in order to examine calf and thigh muscles and we used histological,enzyme-histochemical and immunohistochemical techniques to detect bicipital muscle of arm.Finally,peripheral venous blood of 2 mL was extracted to sequence related gene of hereditary muscular disorders,which was carried out by gene company.Results Muscle fibers presented by muscle biopsy showed atrophy,hypertrophy and regeneration and the presence of rimmed vacuoles(RV),which conformed to pathological changes of myopathy.Muscle MRI pointed out mild fatty infiltration in quadriceps,no affected changes in vastus lateralis muscle and severe fatty infiltration in posterior group of thigh muscles.The genetic analysis showed mutation of GNE gene.Conclusion Nonaka myopathy is a GNE gene-induced disease and inherited in an autosomal recessive manner,characterized by tibialis anterior muscles being affected initially and quadriceps being not affected at early stage.Typical muscle pathology shows the formation of rimmed vacuoles and the muscle MRI directly displays the degree and the distribution of muscle fatty infiltration.关键词
Nonaka肌病/GNE基因/肌肉磁共振Key words
Nonaka myopathy/GNE gene/Muscle MRI分类
医药卫生引用本文复制引用
黄超,周海涛,任向阳,马聪敏..Nonaka肌病临床病理及肌肉磁共振特点分析[J].中国实用神经疾病杂志,2017,20(10):19-22,4.
