Suppr超能文献

杜氏肌营养不良症的携带者检测

Carrier detection in Duchenne muscular dystrophy.

作者信息

Fitzsimmons J S, McLachlan J I, Reeves W G, Marriott D W, Woolfson A M, Mayhew J

出版信息

J Med Genet. 1980 Jun;17(3):165-9. doi: 10.1136/jmg.17.3.165.

Abstract

Serum creatine kinase, myoglobin, and percentage lymphocyte capping was determined in ten patients with Duchenne muscular dystrophy, 12 carriers (nine definite and three probable), 16 other female relatives, and eight normal controls. There was no detectable difference in lymphocyte capping ability between any of these clinical groups. Significant myoglobinaemia was present in all the affected males, but the difference in levels between carriers and controls suggested that this test has no advantage over creatine kinase estimations in carrier detection.

摘要

对10例杜氏肌营养不良患者、12名携带者(9名确定携带者和3名可能携带者)、16名其他女性亲属以及8名正常对照者测定了血清肌酸激酶、肌红蛋白和淋巴细胞帽形成百分比。这些临床组之间的淋巴细胞帽形成能力没有可检测到的差异。所有受影响的男性均存在明显的肌红蛋白尿血症,但携带者与对照者之间的水平差异表明,在携带者检测中,该检测方法相对于肌酸激酶测定并无优势。

相似文献

1
Carrier detection in Duchenne muscular dystrophy.杜氏肌营养不良症的携带者检测
J Med Genet. 1980 Jun;17(3):165-9. doi: 10.1136/jmg.17.3.165.
6
Myoglobinaemia in Duchenne muscular dystrophy patients and carriers: A new adjunct to carrier detection.
Lancet. 1978 Sep 2;2(8088):499-501. doi: 10.1016/s0140-6736(78)92221-3.

引用本文的文献

本文引用的文献

1
Erythrocyte deformation in human muscular dystrophy.
Science. 1974 Apr 12;184(4133):165-6. doi: 10.1126/science.184.4133.165.
4
Screening for Duchenne muscular dystrophy.杜氏肌营养不良症的筛查
Arch Dis Child. 1976 Apr;51(4):249-51. doi: 10.1136/adc.51.4.249.
5
Muscles, membranes and maternal markers.肌肉、膜和母体标志物。
N Engl J Med. 1978 Oct 19;299(16):885-6. doi: 10.1056/NEJM197810192991610.
6
Serum creatine kinase levels in normal females.正常女性的血清肌酸激酶水平。
J Med Genet. 1979 Feb;16(1):49-51. doi: 10.1136/jmg.16.1.49.
9
Myoglobinaemia in Duchenne muscular dystrophy patients and carriers: A new adjunct to carrier detection.
Lancet. 1978 Sep 2;2(8088):499-501. doi: 10.1016/s0140-6736(78)92221-3.

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验