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印度的约瑟夫病——两个家族的报告。

Joseph disease in India--report of two families.

作者信息

Jain S, Maheshwari M C

出版信息

J Neurogenet. 1986 Jan;3(1):61-73. doi: 10.3109/01677068609106895.

DOI:10.3109/01677068609106895
PMID:3958821
Abstract

Joseph disease (JD) has only rarely been described in families of non-Portuguese ancestry. Two Indian families with an autosomal dominant inherited ataxia are described in this report. The clinical picture resembled the spectrum seen in JD. An interesting feature was the very early manifestation of the disease process in the third generations. Considerable phenotypic variation within one family was another important aspect. These families had always lived in northern India for the past many generations.

摘要

约瑟夫病(JD)在非葡萄牙血统的家族中鲜有报道。本报告描述了两个患有常染色体显性遗传性共济失调的印度家族。临床表现类似于JD所见的谱系。一个有趣的特征是第三代中疾病进程的非常早期表现。一个家族内相当大的表型变异是另一个重要方面。在过去的许多代中,这些家族一直生活在印度北部。

相似文献

1
Joseph disease in India--report of two families.印度的约瑟夫病——两个家族的报告。
J Neurogenet. 1986 Jan;3(1):61-73. doi: 10.3109/01677068609106895.
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