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杜氏肌营养不良症某些携带者检测技术的评估

An evaluation of some carrier detection techniques in Duchenne muscular dystrophy.

作者信息

Lane R J, Maskrey P, Nicholson G A, Siddiqui P Q, Nicholson M, Gascoigne P, Pennington R J, Gardner-Medwin D, Walton J N

出版信息

J Neurol Sci. 1979 Nov;43(3):377-94. doi: 10.1016/0022-510x(79)90017-0.

DOI:10.1016/0022-510x(79)90017-0
PMID:160446
Abstract

Some recently described abnormalities in the serum and red cell membranes in Duchenne dystrophy have been examined as methods of carrier detection in a single-blind controlled study. Twelve carriers (4 definite, 3 probable and 5 possible carriers previously found to have raised creatine kinase levels) and 12 normal female controls of the same age, were examined on 3 separate occasions at approximately two-weekly intervals. Analysis of age-dependent red cell shape changes, serum haemopexin levels, red cell K+ efflux rate, sensitivity of red cell ghost membrane ATPase to ouabain, membrane protein phosphorylation studies and lactate dehydrogenase isoenzyme profiles on agarose gel electrohoresis all failed to distinquish carriers from controls. The carriers suffered muscle cramps more frequently than the controls and all but one carrier and two control subjects were correctly identified by manual muscle strength testing, certain proximal muscles in paricular being consistently weaker in carriers than in the control group subjects. Scalar electrocardiography revealed higher values for the R/S ratio in Leads V1 and V2 and the sum (R-S) in V2.

摘要

在一项单盲对照研究中,对一些最近所描述的杜氏肌营养不良患者血清和红细胞膜异常情况进行了检测,作为携带者检测方法。选取了12名携带者(4名确定携带者、3名可能携带者和5名此前发现肌酸激酶水平升高的可能携带者)以及12名年龄相同的正常女性对照者,在大约两周的间隔时间内分3次进行检查。对年龄依赖性红细胞形态变化、血清血红素结合蛋白水平、红细胞钾离子外流率、红细胞空影膜ATP酶对哇巴因的敏感性、膜蛋白磷酸化研究以及琼脂糖凝胶电泳上的乳酸脱氢酶同工酶谱进行分析,均未能将携带者与对照者区分开来。携带者比对照者更频繁地出现肌肉痉挛,除一名携带者和两名对照者外,通过徒手肌力测试均可正确识别所有携带者,特别是某些近端肌肉,携带者始终比对照组受试者更弱。标测心电图显示,V1和V2导联的R/S比值以及V2导联的(R - S)总和值更高。

相似文献

1
An evaluation of some carrier detection techniques in Duchenne muscular dystrophy.杜氏肌营养不良症某些携带者检测技术的评估
J Neurol Sci. 1979 Nov;43(3):377-94. doi: 10.1016/0022-510x(79)90017-0.
2
Electrocardiographic abnormalities in carriers of Duchenne muscular dystrophy.杜氏肌营养不良症携带者的心电图异常
Neurology. 1980 May;30(5):497-501. doi: 10.1212/wnl.30.5.497.
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Duchenne carriers: lactate dehydrogenase isoenzyme 5 in serum and muscle.杜兴氏肌营养不良症携带者:血清和肌肉中的乳酸脱氢酶同工酶5
Neurology. 1980 Feb;30(2):206-9. doi: 10.1212/wnl.30.2.206.
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Serum myoglobin in muscular dystrophy and carrier detection.肌营养不良症中的血清肌红蛋白及携带者检测。
J Neurol Sci. 1981 Sep;51(3):411-26. doi: 10.1016/0022-510x(81)90118-0.
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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.
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[A study on the serum biochemistry in carrier detection of Duchenne muscular dystrophy].[杜氏肌营养不良症携带者检测中的血清生物化学研究]
Zhonghua Shen Jing Jing Shen Ke Za Zhi. 1991 Jun;24(3):165-8, 189.
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Lactate dehydrogenase isoenzyme in detecting carriers of Duchenne muscular dystrophy.乳酸脱氢酶同工酶在检测杜氏肌营养不良症携带者中的应用
Neurology. 1977 May;27(5):414-21. doi: 10.1212/wnl.27.5.414.
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Serum LDH-5 in carriers of Duchenne muscular dystrophy.杜氏肌营养不良症携带者的血清乳酸脱氢酶-5
Neurology. 1979 Feb;29(2):239-41. doi: 10.1212/wnl.29.2.239.
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Carrier detection in Duchenne muscular dystrophy: Assessment of the effect of age on detection-rate with serum-creatine-kinase-activity.杜氏肌营养不良症的携带者检测:评估年龄对血清肌酸激酶活性检测率的影响。
Lancet. 1979 Mar 31;1(8118):692-4. doi: 10.1016/s0140-6736(79)91147-4.
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Needle muscle biopsy for carrier detection in Duchenne muscular dystrophy. Part 1. Light microscopy--histology, histochemistry and quantitation.
J Neurol Sci. 1981 Feb;49(2):305-24. doi: 10.1016/0022-510x(81)90087-3.

引用本文的文献

1
Duchenne muscular dystrophy: pathogenetic aspects and genetic prevention.杜氏肌营养不良症:发病机制及基因预防
Hum Genet. 1984;66(1):17-40. doi: 10.1007/BF00275183.
2
On the power to detect differences between male and female mutation rates for Duchenne muscular dystrophy, using classical segregation analysis and restriction fragment length polymorphisms.利用经典分离分析和限制性片段长度多态性检测杜氏肌营养不良症男性和女性突变率差异的效能研究
Am J Hum Genet. 1986 Jun;38(6):827-40.
3
Clinical, biochemical and histological responses to treatment in polymyositis: a prospective study.
多发性肌炎治疗的临床、生化及组织学反应:一项前瞻性研究。
J R Soc Med. 1989 Jun;82(6):333-8. doi: 10.1177/014107688908200607.