Appel S H
Postgrad Med. 1978 Aug;64(2):93-102. doi: 10.1080/00325481.1978.11714902.
The muscular dystrophies are inherited diseases involving skeletal muscle and, to a variable extent, many other organs of the body. Each presents a distinctive clinical syndrome, and each presumably reflects a distinctive inborn error of metabolism. The precise metabolic defect is not known for any of these disorders. However, recent studies suggest that abnormalities in cellular membranes may help explain clinical deficits in two of the most important disorders, Duchenne's muscular dystrophy and myotonic muscular dystrophy.
肌营养不良症是累及骨骼肌并在不同程度上累及身体许多其他器官的遗传性疾病。每种疾病都呈现出独特的临床综合征,并且每种疾病可能都反映了独特的先天性代谢缺陷。这些疾病中的任何一种的确切代谢缺陷尚不清楚。然而,最近的研究表明,细胞膜异常可能有助于解释两种最重要的疾病——杜兴氏肌营养不良症和强直性肌营养不良症——的临床缺陷。