摘要
目的研究Duchenne肌营养不良症（Duchenne muscular dystrophy，DMD）患者随疾病发展肌肉受累的顺序及程度。方法用多重连接依赖性探针扩增技术（multiplex ligation-dependent probe amplification，MLPA）检测患者dystrophin基因的突变情况。采用磁共振成像（magneticresonanceimaging，MRI）对患者双侧大腿肌肉进行扫描并分析图像。结果MLPA检测发现6例患者均携带dystrophin基因的缺失或重复突变。DMD患者肌肉受累的顺序依次为：臀大肌、大收肌、股四头肌、股直肌和股二头肌，而半膜肌、半腱肌、缝匠肌、股薄肌选择性受累，程度依次减轻。结论MRI检查可以客观地反映DMD患者骨骼肌受累的顺序、范围和程度，并且反映不同阶段受损骨骼肌的病理改变，可能成为检查和诊断的重要手段。患者病情的严重程度与突变性质无明显关联。
Objective To study the order and degree of muscular affection in patients with Duchenne muscular dystrophy （DMD） during the course of disease. Methods Multiplex ligation dependent probe amplification （MLPA） was used to detect potential mutation of dystrophin gene. Magnetic resonance imaging （MRI） was used to scan the anteromedial aspect of thigh muscles. Results All of the 6 patients were found to have deletion or duplication mutations. The order of affection has been gluteus maximus, adductor magnus, quadriceps femoris, rectus femoris and biceps muscle of the thigh, while semimembranous muscle,semitendinosus, sartorius muscle and musculus gracilis are selectively affected and in a decreasing order. Conclusion MRI can reflect the order, extent and degree of skeletal muscle involvement in patients with DMD, and can reflect pathological changes of damaged skeletal muscle at each stage, which may provide an important means for patient examination and diagnosis. No apparent correlation between the severity of disease and the nature of mutations was noted.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2014年第3期372-375,共4页
Chinese Journal of Medical Genetics
基金
国家自然科学基金-广东省联合基金（U1032004）
