Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I-Reference-Cited by-同舟云学术

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

Published:2003-12 Issue:8 Volume:26 Page:813-815
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Budde S. M. S.¹,van den Heuvel L. P. W. J.¹²,Smeets R. J. P.¹,Skladal D.³,Mayr J. A.⁴,Boelen C.¹,Petruzzella V.⁵,Papa S.⁵,Smeitink J. A. M.⁵

Affiliation:

1. ; Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics; University Medical Center Nijmegen; Nijmegen The Netherlands

2. ; Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics; University Medical Center Nijmegen; PO Box 9101, Geert Grooteplein 20 Nijmegen 6500 HB The Netherlands

3. ; University Children's Hospital Innsbruck; Innsbruck

4. Children's Hospital; Salzburg Austria

5. ; Department of Medical Biochemistry and Medical Biology; University of Bari; Bari Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000010003.14113.af/fullpdf

Reference5 articles.

1. Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded ND UFS4 gene;Budde;Biochem Biophys Res Commun,2000

2. A nonsense mutation in the ND UFS4 gene encoding the 18kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome;Petruzella;Hum Mol Genet,2001

3. Birth prevalence of mitochondrial respiratory chain disorders in children;Skladal;Brain,2003

4. Human NADH:ubiquinone oxidoreductase;Smeitink;J Bioenerg Biomembr,2001

5. Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit;Heuvel;Am J Hum Genet,1998

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