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[McArdle's disease--description based on three own observations (author's transl)].

作者信息

Berger M, Gibbels E, Leven B, Seiler D

出版信息

Fortschr Neurol Psychiatr Grenzgeb. 1978 Jun;46(6):312-26.

PMID:276513
Abstract

The paper reports on three observations made by the authors of McArdle's Disease. Characteristic symptoms are a premature tiring of the musculature and painful muscle contractions; in the late stage of the disease, mild muscle atrophy can also occur. The ischemia test is is pathologic. Myoglobinuria often occurs after major strain. Studies by light microscope and the electron-microscope result in an increased glycogen deposit in the muscle fiber. The diagnosis is verfied by the histochemical and biochemical proof of muscle phosphorylase deficiency. Routine histologic investigation of muscle biopsy is not sufficient to identify the disease. Despite the established enzyme defect and the resulting impairment of anerobic energy availability, the genesis of the disease or syndrome has not yet been fully clarified.

摘要

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1
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Fortschr Neurol Psychiatr Grenzgeb. 1978 Jun;46(6):312-26.
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Muscle phosphorylase deficiency in childhood.儿童期肌肉磷酸化酶缺乏症。
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Examination of a case of suspected McArdle's syndrome by 31P nuclear magnetic resonance.通过31P核磁共振对一例疑似麦克尔氏综合征的病例进行检查。
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引用本文的文献

1
Muscle phosphorylase deficiency in childhood.儿童期肌肉磷酸化酶缺乏症。
Eur J Pediatr. 1980 Aug;134(2):161-5. doi: 10.1007/BF01846039.
2
Phosphorylation of McArdle phosphorylase induces activity.麦卡德尔磷酸化酶的磷酸化可诱导活性。
Proc Natl Acad Sci U S A. 1981 May;78(5):2688-92. doi: 10.1073/pnas.78.5.2688.