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Diagnosis of Complex I Deficiency in Patients with...
Journal article

Diagnosis of Complex I Deficiency in Patients with Lactic Acidemia Using Skin Fibroblast Cultures

Abstract

The requirement for a rapid and easy method of preparing mitochondrial fractions from cultured skin fibroblasts led us to compare the results obtained from such a preparation with the more traditional methods of cellular fractionation. Values for NADH-cytochrome c reductase (rotenone sensitive) were compared for a series of three controls and nine patients with complex I (NADH-coenzyme Q reductase deficiency). Values obtained for deficient cell …

Authors

Pitkänen S; Raha S; Robinson BH

Journal

Molecular Genetics and Metabolism, Vol. 59, No. 2, pp. 134–137

Publisher

Elsevier

Publication Date

12 1996

DOI

10.1006/bmme.1996.0078

ISSN

1096-7192