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X连锁进行性肌营养不良的家族内变异性。同一家族中X连锁肌营养不良的轻度和急性形式。

Intrafamilial variability of X-linked progressive muscular dystrophy. Mild and acute form of X-linked muscular dystrophy in the same family.

作者信息

Hausmanowa-Petrusewicz I, Borkowska J

出版信息

J Neurol. 1978 Apr 14;218(1):43-50. doi: 10.1007/BF00314717.

Abstract

Four of five afflicted boys in the family K. suffer from the Becker type of dystrophy and one from a more severe type. All affected boys and their mothers, who are three sisters, have undergone clinical, electromyographic, electrocardiographic and biochemical examination; muscle biopsy was performed in some boys. This family is a rare example of the intrafamilial variability of X-linked progressive muscular dystrophy. The possible explanation of the variability observed is discussed.

摘要

K氏家族中五名患病男孩中有四名患有贝克型肌营养不良症,一名患有更严重的类型。所有患病男孩及其母亲(她们是三姐妹)都接受了临床、肌电图、心电图和生化检查;部分男孩还进行了肌肉活检。这个家族是X连锁进行性肌营养不良症家族内变异的罕见例子。文中讨论了观察到的变异的可能解释。

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