Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.
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.
Carrier
H
H
Departement de Recherches Neuromusculaires (INSERM U.52) du Laboratoire d'Anatomie-Pathologique, Faculté de Médecine Carrel, Lyon, France.
Maire
I
I
Vial
C
C
Rambaud
G
G
Flocard
F
F
Flechaire
A
A
D000328:Adult; D001284:Atrophy; D005260:Female; D006003:Glycogen / Q000032:analysis; D006008:Glycogen Storage Disease / Q000201:enzymology / Q000473:pathology* / Q000503:physiopathology; D006019:Glycolysis; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000378:metabolism / Q000473:pathology* / Q000648:ultrastructure; D009135:Muscular Diseases / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D010146:Pain / Q000209:etiology / Q000378:metabolism / Q000473:pathology*; D010764:Phosphorylase Kinase / Q000172:deficiency* / Q000378:metabolism; D010763:Phosphorylase b / Q000378:metabolism; D005082:Physical Exertion; D013577:Syndrome
D006003:Glycogen; D010763:Phosphorylase b; D010764:Phosphorylase Kinase