Neurology 1986-Jun
Normal fibroblast mitochondrial malic enzyme activity in Friedreich's ataxia.
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
Mitochondrial and cytoplasmic malic isoenzymes were assayed fluorometrically in digitonin-fractionated fibroblasts from three patients with Friedreich's ataxia (FA). Normal activity was found, failing to verify an earlier report of reduced fibroblast mitochondrial malic enzyme activity in FA. The previously reported disturbance in fibroblast mitochondrial malic enzyme may be an epiphenomenon in patients with the FA phenotype. Further studies are necessary to define the primary genetic defect in this inherited disorder.