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PMID: 14765537 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't

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

Journal of inherited metabolic disease ·Vol. 26 ·No. 8 ·2003-00-00 ·Pages 813-5

Budde SM, van den Heuvel LP, Smeets RJ, Skladal D, Mayr JA, Boelen C, Petruzzella V, Papa S, Smeitink JA

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.

MeSH Terms

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

Chemicals

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

Authors & Affiliations

9 authors, click to expand affiliations / ORCID

Budde S M S

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

Smeets R J P

Skladal D

Mayr J A

Boelen C

Petruzzella V

Papa S

Smeitink J A M

Article Info

Journal

Journal of inherited metabolic disease

Abbr.

J Inherit Metab Dis

ISSN

0141-8955

DOI

10.1023/b:boli.0000010003.14113.af

Published

2003-00-00

Pages

813-5

Language

English

Region

United States

NLM ID

7910918

Subset

External Links

PubMed source DOI: 10.1023/b:boli.0000010003.14113.af View journal details

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

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