伴有磷酸化酶b激酶缺乏的劳力性肌肉疼痛综合征的肌病性演变。

Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.

作者信息

Carrier H, Maire I, Vial C, Rambaud G, Flocard F, Flechaire A

机构信息

Departement de Recherches Neuromusculaires (INSERM U.52) du Laboratoire d'Anatomie-Pathologique, Faculté de Médecine Carrel, Lyon, France.

出版信息

Acta Neuropathol. 1990;81(1):84-8. doi: 10.1007/BF00662642.

DOI:10.1007/BF00662642

PMID:2128163

Abstract

The symptoms of a myopathy permanently affecting limb girdle muscles are reported in a 31-year-old woman who has been presenting an exertional muscle pain syndrome with myoglobinuria for 20 years. Investigations revealed a slightly decreased utilization of glycogen in muscle, while its storage affected only rare type 2 fibers. Active phosphorylase was undetectable and phosphorylase b kinase activity was clearly decreased in muscle cells, but normal in erythocytes, lymphocytes and cultured fibroblasts.

摘要

一名31岁女性报告了永久性影响肢带肌的肌病症状，该患者出现运动性肌肉疼痛综合征伴肌红蛋白尿已有20年。检查发现肌肉中糖原利用率略有下降，而其储存仅影响罕见的2型纤维。在肌肉细胞中未检测到活性磷酸化酶，磷酸化酶b激酶活性明显降低，但在红细胞、淋巴细胞和培养的成纤维细胞中正常。