Article
Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.
Molecular genetics and metabolism - 1 Nov 2012
DeBrosse Suzanne D, Okajima Kazuki, Zhang Shulin, Nakouzi Ghunwa, Schmotzer Christine L, Lusk-Kopp Marilyn, Frohnapfel Mary Beth, Grahame George, Kerr Douglas S
Abstract excerpt
Pyruvate dehydrogenase complex (PDC) deficiency is a relatively common mitochondrial disorder that primarily presents with neurological manifestations and lactic acidemia. We analyzed the clinical outcomes and neurological features of 59 consented symptomatic subjects (27 M, 32 F), who were confirmed to have PDC deficiency with defined mutations in one of the genes of PDC (PDHA1, n = 53; PDHB, n = 4; DLAT, n =...
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