Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

S M S Budde; L P W J van den Heuvel; R J P Smeets; D Skladal; J A Mayr; C Boelen; V Petruzzella; S Papa; J A M Smeitink

doi:10.1023/b:boli.0000010003.14113.af

Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I

J Inherit Metab Dis. 2003;26(8):813-5. doi: 10.1023/b:boli.0000010003.14113.af.

Authors

S M S Budde¹, L P W J van den Heuvel, R J P Smeets, D Skladal, J A Mayr, C Boelen, V Petruzzella, S Papa, J A M Smeitink

Affiliation

¹ Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 20, 6500 HB Nijmegen, The Netherlands.

PMID: 14765537
DOI: 10.1023/b:boli.0000010003.14113.af

Abstract

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Electron Transport Complex I
Female
Genotype
Humans
Infant
Male
Mutation*
NADH Dehydrogenase
NADH, NADPH Oxidoreductases / genetics*

Substances

NADH, NADPH Oxidoreductases
NADH Dehydrogenase
Electron Transport Complex I
NDUFS4 protein, human