Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I.
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.
Budde
S M S
SM
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 20, 6500 HB Nijmegen, The Netherlands.
van den Heuvel
L P W J
LP
Smeets
R J P
RJ
Skladal
D
D
Mayr
J A
JA
Boelen
C
C
Petruzzella
V
V
Papa
S
S
Smeitink
J A M
JA
D042967:Electron Transport Complex I; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009245:NADH Dehydrogenase; D009247:NADH, NADPH Oxidoreductases / Q000235:genetics*
D009247:NADH, NADPH Oxidoreductases; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C427643:NDUFS4 protein, human