Neuromuscular Disorders 1992
Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency.
只有注册用户可以翻译文章
登陆注册
链接已保存到剪贴板
关键词
抽象
A 7 1/2-yr-old girl suffered, since early infancy, severe recurrent myalgia during periodic attacks of fever, vomiting and pharyngitis. Neither myoglobinuria nor exercise-induced muscle pain was present. She was found to have carnitine palmitoyltransferase deficiency (CPTD) in leukocytes, fibroblasts and muscle. This case exemplifies the importance of looking for an associated metabolic etiology of recurrent febrile myalgia even in the absence of myoglobinuria.