Concepedia

Clinical heterogeneity in patients with mutations in the <i>NDUFS4</i> gene of mitochondrial complex I

Sandy Budde, Lambert P.W.J. van den Heuvel, Roel Smeets, Daniela Skladal, Johannes A. Mayr, C Boelen, Vittoria Petruzzella, Sergio Papa

Journal of Inherited Metabolic Disease · 2003 · 73 citations · 5 references

DOI

Concepts

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.

References

5

Minimum birth prevalence of mitochondrial respiratory chain disorders in children

Daniela Skladal · Brain · 2003 · 492 citations · Full text

, , +14

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

Lambert van den Heuvel, W. Ruitenbeek, Roel Smeets et al. · The American Journal of Human Genetics · 1998 · 264 citations · Full text

, , +7

Combined Enzymatic Complex I and III Deficiency Associated with Mutations in the Nuclear Encoded NDUFS4 Gene

Sandy Budde, Lambert P.W.J. van den Heuvel, A.J.M. Janssen et al. · Biochemical and Biophysical Research Communications · 2000 · 186 citations

, , +9

A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome

Vittoria Petruzzella · Human Molecular Genetics · 2001 · 137 citations

, , +17

Human NADH:Ubiquinone Oxidoreductase

Jan Smeitink, R. C. A. Sengers, Frans J.M. Trijbels et al. · Journal of Bioenergetics and Biomembranes · 2001 · 119 citations