儿童及青少年慢性近端脊髓性肌萎缩症：分类及遗传咨询问题
Chronic proximal spinal muscular atrophy of childhood and adolescence: problems of classification and genetic counselling.
作者信息
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J
出版信息
J Med Genet. 1985 Oct;22(5):350-3. doi: 10.1136/jmg.22.5.350.
Abstract
Results obtained from a study of 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence suggest that the condition is not as homogeneous as it was previously thought. A tentative classification based on our results is proposed. Estimates of genetic risks are provided, taking into account the sex and age at clinical onset. In our opinion these factors are more reliable than the data hitherto available because they are based on a considerably larger series.
摘要
对354例儿童及青少年慢性近端脊髓性肌萎缩症的研究结果表明，该病并不像之前认为的那样具有同质性。基于我们的研究结果提出了一个初步分类。在考虑临床发病时的性别和年龄的基础上，给出了遗传风险估计。我们认为这些因素比迄今可得的数据更可靠，因为它们基于一个大得多的样本系列。
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本文引用的文献
1
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Brain. 1964 Dec;87:707-18. doi: 10.1093/brain/87.4.707.
2
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J Med Genet. 1984 Dec;21(6):447-50. doi: 10.1136/jmg.21.6.447.
3
4
The genetic identity of acute infantile spinal muscular atrophy.急性婴儿脊髓性肌萎缩症的基因特征
Brain. 1973 Sep;96(3):463-70. doi: 10.1093/brain/96.3.463.
5
A clinical and genetic study of chronic proximal spinal muscular atrophy.慢性近端脊髓性肌萎缩症的临床与遗传学研究
Brain. 1975 Sep;98(3):455-72. doi: 10.1093/brain/98.3.455.
6
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J Neurol Sci. 1976 Dec;30(2-3):375-84. doi: 10.1016/0022-510x(76)90141-6.
7
A clinical study of chronic childhood spinal muscular atrophy. A review of 141 cases.儿童慢性脊髓性肌萎缩症的临床研究。141例病例回顾。
J Neurol Sci. 1978 Aug;38(1):23-37. doi: 10.1016/0022-510x(78)90242-3.
8
A genetic study of subacute and chronic spinal muscular atrophy in childhood. A nosological analysis of 124 index patients.儿童亚急性和慢性脊髓性肌萎缩症的遗传学研究。对124例索引患者的疾病分类分析。
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9
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10
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