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

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.

journal_name

Neurology

journal_title

Neurology

authors

Fernandez RJ,Civantos F,Tress E,Maltese WA,De Vivo DC

doi

10.1212/wnl.36.6.869

subject

Has Abstract

pub_date

1986-06-01 00:00:00

pages

869-72

issue

6

eissn

0028-3878

issn

1526-632X

journal_volume

36

pub_type

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