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弗里德赖希共济失调症——一项家族研究。

Friedreich's disease--a family study.

作者信息

O'Brien E T, Dajee H, Ward O C

出版信息

Eur J Cardiol. 1977 Sep-Oct;6(1):15-24.

PMID:923620
Abstract

Friedreich's disease occurring in 4 male siblings in a sibship of seven caused cardiac and neurological abnormalities and one twin of an affected member died in cardiac failure; at autopsy characteristic pathological features of Friedreich's disease were demonstrated in the nervous system and heart. One female sibling had a patent ductus arteriosus which was treated surgically and a continuous murmur was present in another sister but cardiac catheterization in childhood had been normal.

摘要

在一个七口之家的4名男性同胞中发生的弗里德赖希共济失调导致了心脏和神经异常,一名患病成员的双胞胎死于心力衰竭;尸检时在神经系统和心脏中发现了弗里德赖希共济失调的典型病理特征。一名女性同胞患有动脉导管未闭并接受了手术治疗,另一名姐妹有连续性杂音,但儿童期心脏导管检查正常。

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