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Normal fibroblast mitochondrial malic enzyme activity in Friedreich's ataxia.

作者信息

Fernandez R J, Civantos F, Tress E, Maltese W A, De Vivo D C

出版信息

Neurology. 1986 Jun;36(6):869-72. doi: 10.1212/wnl.36.6.869.

DOI:10.1212/wnl.36.6.869
PMID:3703300
Abstract

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.

摘要

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引用本文的文献

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Friedreich ataxia: an overview.弗里德赖希共济失调：概述
J Med Genet. 2000 Jan;37(1):1-8. doi: 10.1136/jmg.37.1.1.
2
Mitochondrial enzymes in hereditary ataxias.
Metab Brain Dis. 1988 Jun;3(2):151-60. doi: 10.1007/BF01001015.