代谢性肌病

Metabolic myopathies.

作者信息

DiMauro S, Miranda A F, Sakoda S, Schon E A, Servidei S, Shanske S, Zeviani M

出版信息

Am J Med Genet. 1986 Dec;25(4):635-51. doi: 10.1002/ajmg.1320250406.

DOI:10.1002/ajmg.1320250406

Abstract

Six glycogen storage diseases (resulting from deficiencies of acid maltase, phosphorylase, phosphofructokinase, phosphoglycerate kinase, phosphoglycerate mutase, and lactate dehydrogenase) and one mitochondrial myopathy (cytochrome c oxidase deficiency) are reviewed to illustrate: clinical heterogeneity, biochemical heterogeneity, evidence for tissue-specific and developmentally controlled isozymes, and molecular genetic studies.

摘要

回顾了六种糖原贮积病（由酸性麦芽糖酶、磷酸化酶、磷酸果糖激酶、磷酸甘油酸激酶、磷酸甘油酸变位酶和乳酸脱氢酶缺乏引起）和一种线粒体肌病（细胞色素c氧化酶缺乏），以说明：临床异质性、生化异质性、组织特异性和发育调控同工酶的证据以及分子遗传学研究。