A Cluster of Friedreich's Ataxia in Rimouski, Québec
A Cluster of Friedreich's Ataxia in Rimouski, Québec
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魁北克省里穆斯基的弗里德赖希共济失调症群
DOI：
10.1017/s0317167100119651
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发表时间：
1979
期刊：
影响因子：
--
通讯作者：
R. Bouchard
中科院分区：
文献类型：
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作者：
J. Bouchard;A. Barbeau;R. Bouchard;M. Paquet;R. Bouchard
总结我们描述了一组8个独立的兄弟姐妹弗里德赖希共济失调在ShFabien教区的Rimouski，并已表明，他们都在6代内相关。对这种地理和遗传分离株的研究允许调查这种疾病的某些不寻常的特征，如持续近视，对疼痛的反应时间延迟，屈肌痉挛和快速进化。
Summary We described a cluster of 8 independent sibships of Friedreich's ataxia in the ShFabien 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, anda rapid evolution.