[成人磷酸化酶激酶缺乏所致糖原生成]
[Glycogenesis due to adult phosphorylase kinase deficiency].
作者信息
Couratier P, Magy L, Baussan C, Antonini M-T, Martaille J-F, Tabaraud F, Vallat J-M
机构信息
Service de Neurologie, CHU Limoges.
出版信息
Rev Neurol (Paris). 2003 Jul;159(6-7 Pt 1):681-4.
PMID:12910079
Abstract
A 42-year-old man presented exercise-induced muscle pain without myogloburia since the age of 12 years. Histochemistry and electronmicroscopy of a muscle biopsy revealed subsarcolemmal and inter-myofibrillar accumulation of glycogen. Exercise on a bicycle ergometer produced a normal raise of lactate. Biochemical study showed a partial defect in phosphorylase activity.
摘要
一名42岁男性自12岁起出现运动诱发的肌肉疼痛，但无肌红蛋白尿。肌肉活检的组织化学和电子显微镜检查显示糖原在肌膜下和肌原纤维间积聚。在自行车测力计上运动时乳酸水平正常升高。生化研究显示磷酸化酶活性存在部分缺陷。
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