Kinetic evidence for a structural abnormality of lipoamide dehydrogenase in two patients with Friedreich ataxia
- 1 December 1978
- journal article
- research article
- Published by Wolters Kluwer Health in Neurology
- Vol. 28 (12) , 1283
- https://doi.org/10.1212/wnl.28.12.1283
Abstract
Two unrelated patients with Friedreich ataxia were deficient in the activity of the enzyme lipoamide dehydrogenase (LAD). The enzymes from the patients' platelets differed significantly from controls in activity, in KM for lipoamide, and in KM for NADH. The data are consistent with a structural mutation of the gene coding for LAD.This publication has 0 references indexed in Scilit: