肯尼迪氏病:临床表现和实验室诊断。

Clinical and experimental neurology Pub Date : 1993-01-01
M W Faragher, W T Choi, H E MacLean, G L Warne, J D Zajac
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引用次数: 0

摘要

肯尼迪氏病是一种成人发病的进行性脊髓和球性肌肉萎缩。本文报道1例肯尼迪氏病,并讨论其实验室诊断和潜在的遗传机制。另外三种神经系统疾病,亨廷顿氏病,肌强直营养不良症和脆性X综合征,也有类似的遗传缺陷,讨论。
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Kennedy's disease: clinical presentation and laboratory diagnosis.

Kennedy's disease is a form of progressive spinal and bulbar muscular atrophy of adult onset. This paper describes a case of Kennedy's disease and discusses the laboratory diagnosis and the underlying genetic mechanism. Three other neurological diseases, Huntington's disease, myotonic dystrophy and fragile X syndrome, which have similar genetic defects, are also discussed.

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