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[血红素结合蛋白与肌肉萎缩症。杜兴氏型携带者的诊断]

[Hemopexin and muscular dystrophy. Diagnosis of carriers of the Duchenne form].

作者信息

Lössner J, Kühn H J, Ruchholtz U

出版信息

Psychiatr Neurol Med Psychol (Leipz). 1982 Jan;34(1):53-9.

PMID:7079414
Abstract

In twelve patients suffering from progressive muscular dystrophy of the Duchenne type and 26 female conductors, 27 patients presenting other forms of muscular dystrophy, 20 unconspicuous family members and in other neuromuscular affections, the haemopexin level was determined besides the cratinine kinase value. Pathological increases in the haemopexin level were found in 17 per cent of the Duchenne patients and in 19 per cent of the conductors as well as in various degrees in patients with other neuromuscular affections. Only eight per cent of the conductors showed an isolated increased haemopexin value, so that the question of a genetic control of the haemopexin level independent of a muscular affection arises. No additional information is obtained by the haemopexin determination for the recognition of conductors.

摘要

在12例杜兴型进行性肌营养不良患者、26名女性携带者、27例患有其他形式肌营养不良的患者、20名无症状家庭成员以及其他神经肌肉疾病患者中,除测定肌酸激酶值外,还测定了血红素结合蛋白水平。在17%的杜兴型患者、19%的携带者以及患有其他神经肌肉疾病的患者中,血红素结合蛋白水平出现病理性升高。只有8%的携带者血红素结合蛋白值单独升高,因此出现了血红素结合蛋白水平的遗传控制是否独立于肌肉疾病的问题。测定血红素结合蛋白水平对于识别携带者并无额外帮助。

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Psychiatr Neurol Med Psychol (Leipz). 1982 Jan;34(1):53-9.
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