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Dokumenttyp:
journal article 
Autor(en):
Mayr, JA; Merkel, O; Kohlwein, SD; Gebhardt, BR; Böhles, H; Fötschl, U; Koch, J; Jaksch, M; Lochmüller, H; Horváth, R; Freisinger, P; Sperl, W 
Titel:
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation. 
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:
Seitenangaben Beitrag:
478-84 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Kinderklinik und Poliklinik