儿童及青少年慢性近端脊髓性肌萎缩症：性别影响
Chronic proximal spinal muscular atrophy of childhood and adolescence: sex influence.
作者信息
Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J, Szirkowiec W
出版信息
J Med Genet. 1984 Dec;21(6):447-50. doi: 10.1136/jmg.21.6.447.
Abstract
Segregation analysis was performed on 354 cases of chronic proximal spinal muscular atrophy of childhood and adolescence (CPSMA) in the total series and in a number of subgroups formed according to the age at onset and sex. The analysis provided evidence of sex influence in the series studied, particularly in a subgroup of the milder form of the disease with onset between the 37th month and 18th year of life. In the latter subgroup, females were affected much less frequently. This was particularly striking after age at onset of 8 years, and only exceptionally were females affected after the age of 13 years. These facts point to incomplete penetrance of the gene.
摘要
对该系列中354例儿童和青少年慢性近端脊髓性肌萎缩症（CPSMA）病例以及根据发病年龄和性别形成的多个亚组进行了分离分析。分析结果表明在所研究的系列中存在性别影响，特别是在疾病较轻形式且发病年龄在出生后第37个月至18岁之间的亚组中。在后一个亚组中，女性受影响的频率要低得多。这在8岁发病年龄之后尤为明显，13岁以后仅有个别女性受影响。这些事实表明该基因存在不完全外显现象。
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