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Document type:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Article 
Author(s):
Mayr, JA; Merkel, O; Kohlwein, SD; Gebhardt, BR; Böhles, H; Fötschl, U; Koch, J; Jaksch, M; Lochmüller, H; Horvath, R; Freisinger, P; Sperl, W 
Title:
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...    »
 
Journal title abbreviation:
Am J Hum Genet 
Year:
2007 
Journal volume:
80 
Journal issue:
Pages contribution:
478-84 
Language:
eng 
Fulltext / DOI:
Print-ISSN:
0002-9297 
TUM Institution:
Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin