Article
Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
Molecular genetics and metabolism - 1 Jul 2010
Coughlin Curtis R, Krantz Ian D, Schmitt Eric S, Zhang Shulin, Wong Lee-Jun C, Kerr Douglas S, Ganesh Jaya
Abstract excerpt
Pyruvate dehydrogenase complex deficiency is a clinically heterogeneous disorder. Most cases are due to mutations in an X-linked PDHA1 gene encoding the E1alpha subunit of the multienzyme complex. Females with mutations in the PDHA1 gene may be asymptomatic or have a milder phenotype as a result of skewed X-inactivation, while males are typically more severely affected. We report a case of PDHA1 mosaicism in a...
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