These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency.
    Author: Coughlin CR, Krantz ID, Schmitt ES, Zhang S, Wong LJ, Kerr DS, Ganesh J.
    Journal: Mol Genet Metab; 2010 Jul; 100(3):296-9. PubMed ID: 20462777.
    Abstract:
    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 male patient who had a milder phenotype.
    [Abstract] [Full Text] [Related] [New Search]