MYOPATHIC EVOLUTION OF AN EXERTIONAL MUSCLE PAIN SYNDROME WITH PHOSPHORYLASE-B KINASE-DEFICIENCY

被引：13

作者：

CARRIER, H

MAIRE, I

VIAL, C

RAMBAUD, G

FLOCARD, F

FLECHAIRE, A

机构：

[1] HOP NEUROL,SERV ELECTROMYOG,F-69394 LYONS 3,FRANCE

[2] HOP INSTRUCT ARMEES DESGENETTES,SERV NEUROL,LYONS,FRANCE

[3] HOP INSTRUCT ARMEES DESGENETTES,SERV MED INTERNE,LYONS,FRANCE

[4] CTR HOSP CHAMBERY,SERV NEUROL,CHAMBERY,FRANCE

[5] HOP DEBROUSSE,CTR ETUD MALAD METAB,F-69005 LYONS,FRANCE

来源：

ACTA NEUROPATHOLOGICA | 1990年 / 81卷 / 01期

关键词：

Exertional muscle pain syndrome; Phosphorylase b kinase;

D O I：

10.1007/BF00662642

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. © 1990 Springer-Verlag.

引用

页码：84 / 88

页数：5

共 33 条

[1]

ABARBANEL JM, 1986, NEUROLOGY, V36, P650

[2] GLYCOGENOSIS DUE TO LIVER AND MUSCLE PHOSPHORYLASE-KINASE DEFICIENCY [J].