魁北克省里穆斯基的弗里德赖希共济失调病例群。
A cluster of Friedreich's ataxia in Rimouski, Québec.
作者信息
Bouchard J P, Barbeau A, Bouchard R, Paquet M, Bouchard R W
出版信息
Can J Neurol Sci. 1979 May;6(2):205-8. doi: 10.1017/s0317167100119651.
PMID:487312
Abstract
We described a cluster of 8 independent sibships of Friedreich's ataxia in the St-Fabien parish of Rimouski and have shown that they are all related within 6 generations. The study of this geographic and genetic isolate permitted the investigation of certain unusual features of the disease such as constant myopia, delayed reaction times to pain, flexor spasms, and a rapid evolution.
摘要
我们描述了在里穆斯基圣法比安教区的一组8个独立的弗里德赖希共济失调同胞关系，并表明它们在6代内都有亲缘关系。对这个地理和遗传隔离群体的研究使得对该疾病某些不寻常特征的调查成为可能，如持续性近视、对疼痛的反应时间延迟、屈肌痉挛以及快速进展。
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