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Titel:

Heterozygous mutation in the X chromosomal NDUFA1 gene in a girl with complex I deficiency.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Mayr, JA; Bodamer, O; Haack, TB; Zimmermann, FA; Madignier, F; Prokisch, H; Rauscher, C; Koch, J; Sperl, W
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:
4
Seitenangaben Beitrag:
358-61
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ymgme.2011.04.010
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/21596602
Print-ISSN:
1096-7192
TUM Einrichtung:
Institut für Humangenetik
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