Article
Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.
American journal of human genetics - 1 Mar 2007
Mayr Johannes A, Merkel Olaf, Kohlwein Sepp D, Gebhardt Boris R, Böhles Hansjosef, Fötschl Ulrike, Koch Johannes, Jaksch Michaela, Lochmüller Hanns, Horváth Rita, Freisinger Peter, Sperl Wolfgang
Abstract excerpt
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...
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