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Titel:

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Mayr, JA; Merkel, O; Kohlwein, SD; Gebhardt, BR; Böhles, H; Fötschl, U; Koch, J; Jaksch, M; Lochmüller, H; Horvath, R; Freisinger, P; Sperl, W
Abstract:
The mitochondrial phosphate carrier SLC25A3 transports inorganic phosphate into the mitochondrial matrix, which is essential for the aerobic synthesis of adenosine triphosphate (ATP). We identified a homozygous mutation--c.215G-->A (p.Gly72Glu)--in the alternatively spliced exon 3A of this enzyme in two siblings with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia who died within the 1st year of life. Functional investigation of intact mitochondria showed a deficiency of ATP...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2007
Band / Volume:
80
Heft / Issue:
3
Seitenangaben Beitrag:
478-84
Sprache:
eng
Volltext / DOI:
doi:10.1086/511788
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/17273968
Print-ISSN:
0002-9297
TUM Einrichtung:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin
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