家族性晚发型眼咽型肌营养不良症
Familial late onset oculopharyngeal muscular dystrophy.
作者信息
Isenberg D A, Kahn P
出版信息
Postgrad Med J. 1981 Jan;57(663):41-3. doi: 10.1136/pgmj.57.663.41.
Abstract
An English family is described several members of which have suffered from oculopharyngeal muscular dystrophy. No symptoms were noticed in any affected members of the family until aged at least 50 years. An autosomal dominant pattern of inheritance is clearly shown.
摘要
描述了一个英国家庭，其中几名成员患有眼咽型肌营养不良症。该家族中任何受影响的成员在至少50岁之前都未出现症状。明显呈现出常染色体显性遗传模式。
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