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Dokumenttyp:
journal article 
Autor(en):
Mayr, JA; Bodamer, O; Haack, TB; Zimmermann, FA; Madignier, F; Prokisch, H; Rauscher, C; Koch, J; Sperl, W 
Titel:
Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency. 
Abstract:
Respiratory chain enzymes consist of multiple subunits encoded either by the mitochondrial or by the nuclear genome. Recently the first X-chromosomal mutations in complex I deficient males have been described. Heterozygous female carriers did not seem to be affected. Here, we describe a girl initially presenting with mild muscular hypotonia, a moderate lactic acidosis and an increased beta-hydroxybutyrate/acetoacetate ratio. Biochemical investigations of a muscle biopsy revealed a deficiency in...    »
 
Zeitschriftentitel:
Mol Genet Metab 
Jahr:
2011 
Band / Volume:
103 
Heft / Issue:
Seitenangaben Beitrag:
358-61 
Sprache:
eng 
Print-ISSN:
1096-7192 
TUM Einrichtung:
r Humangenetik