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Broad phenotypic variability in patients with complex I deficiency due to mutations in NDUFS1 and NDUFV1.

Journal article
Authors Kristoffer Björkman
Kalliopi Sofou
Niklas Darin
Elisabeth Holme
Gittan Kollberg
Jorge Asin-Cayuela
Karin M Holmberg Dahle
Anders Oldfors
Ali-Reza Moslemi
Mar Tulinius
Published in Mitochondrion
Volume 21
Pages 33-40
ISSN 1872-8278
Publication year 2015
Published at Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
Institute of Biomedicine, Department of Pathology
Institute of Clinical Sciences, Department of Pediatrics
Pages 33-40
Language en
Links dx.doi.org/10.1016/j.mito.2015.01.0...
Subject categories Medical Genetics, Pediatrics

Abstract

We report clinical, metabolic, genetic and neuroradiological findings in five patients from three different families with isolated complex I deficiency. Genetic analysis revealed mutations in NDUFS1 in three patients and in NDUFV1 in two patients. Four of the mutations are novel and affect amino acid residues that either are invariant among species or conserved in their properties. The presented clinical courses are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. A literature review was performed, showing that patients with mutations in NDUFS1 in general have a worse prognosis than patients with mutations in NDUFV1.

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