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

Journal of Inherited Metabolic Disease

Volumn 26, Issue 8, 2003, Pages 813-815

  Budde, S M S ^a   van den Heuvel, L P W J ^a   Smeets, R J P ^a   Skladal, D ^b   Mayr, J A ^c   Boelen, C ^a   Petruzzella, V ^d   Papa, S ^d   Smeitink, J A M ^d  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b ST ANNA CHILDREN S HOSPITAL   (Austria)

^c Children's Hospital Salzburg   (Austria)

^d UNIVERSITY OF BARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

2 OXOGLUTARIC ACID; ALANINE; LACTIC ACID; NUCLEAR PROTEIN; PYRUVIC ACID;

CASE REPORT; CLINICAL FEATURE; COMPARATIVE STUDY; DIAGNOSTIC IMAGING; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTROENCEPHALOGRAM; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; GENOTYPE; HUMAN; INFANT; LABORATORY TEST; LACTATE BLOOD LEVEL; MALE; NERVOUS SYSTEM INJURY; NUCLEAR MAGNETIC RESONANCE IMAGING; RESPIRATORY FAILURE; SHORT SURVEY;

FEMALE; GENOTYPE; HUMANS; INFANT; MALE; MUTATION; NADH DEHYDROGENASE; NADH, NADPH OXIDOREDUCTASES;

EID: 0942288076     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/B:BOLI.0000010003.14113.af     Document Type: Short Survey

References (5)

1. Budde SM, van den Heuvel LP, Jansson AJ, et al (2000) Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded N D U FS4 gene. Biochem Biophys Res Commun 275: 63-68.
2. Petruzella, V, Vergari R, Puzziferri I, et al (2001) A nonsense mutation in the N D U FS4 gene encoding the l8 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. Hum Mol Genet 10: 529-535.
3. Skladal D, Halliday J, Thorburn DR (2003) Birth prevalence of mitochondrial respiratory chain disorders in children. Brain 126: 1905-1912.
4. Smeitink J, Sengers R, Trijbels F, and van den Heuvel L (2001) Human NADH:ubiquinone oxidoreductase. J Bioenerg Biomembr 33: 259-266.
5. van den Heuvel L, Ruitenbeek W, Smeets R, et al (1998) 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. Am J Hum Genet 62: 262-268.