Lössner J, Kühn H J
Psychiatr Neurol Med Psychol (Leipz). 1984 Sep;36(9):513-26.
Metabolic myopathies are a rare group of disorders. These myopathies reveal a varying severity of a proximal, distal or generalized muscular involvement indicating a progressive myopathy or recurrent episodes of weakness, pain, cramps and stiffness combined with exercise. Some important disorders and their biochemical defects are described. Particular attention is paid to helpful biochemical investigative methods.
代谢性肌病是一组罕见的疾病。这些肌病表现出近端、远端或全身性肌肉受累程度各异,提示进行性肌病或伴有运动的肌无力、疼痛、痉挛和僵硬反复发作。文中描述了一些重要的疾病及其生化缺陷。特别关注了有用的生化检查方法。