Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I
SMS Budde, L van den Heuvel, RJP Smeets… - Journal of inherited …, 2003 - Springer
SMS Budde, L van den Heuvel, RJP Smeets, D Skladal, JA Mayr, C Boelen, V Petruzzella…
Journal of inherited metabolic disease, 2003•SpringerClinical heterogeneity in patients with mutations in the <Emphasis Type="Italic">NDUFS4</Emphasis>
gene of Page 1 SHORT REPORT Clinical heterogeneity in patients with mutations in the
NDUFS4 gene of mitochondrial complex I SMS Budde1, LPWJ van den Heuvel1Ã , RJP
Smeets1, D. Skladal2, JA Mayr3, C. Boelen1, V. Petruzzella4, S. Papa4 and JAM Smeitink4
1Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University
Medical Center Nijmegen, Nijmegen, The Netherlands; 2University Children’s Hospital …
gene of Page 1 SHORT REPORT Clinical heterogeneity in patients with mutations in the
NDUFS4 gene of mitochondrial complex I SMS Budde1, LPWJ van den Heuvel1Ã , RJP
Smeets1, D. Skladal2, JA Mayr3, C. Boelen1, V. Petruzzella4, S. Papa4 and JAM Smeitink4
1Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University
Medical Center Nijmegen, Nijmegen, The Netherlands; 2University Children’s Hospital …
Abstract
Summary: A comparison of the clinical presentation, disease course and results of laboratory and imaging studies of all patients so far published with a NDUFS4 mutation are presented. This reveals marked clinical heterogeneity, even in patients with the same genotype.
Springer