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: Molecular characterization of gene expression in human lactate dehydrogenase-A deficiency.
    Author: Miyajima H, Takahashi Y, Suzuki M, Shimizu T, Kaneko E.
    Journal: Neurology; 1993 Jul; 43(7):1414-9. PubMed ID: 8327147.
    Abstract:
    Recurrent rhabdomyolysis due to decreased glycolysis occurred during strenuous exercise in patients with lactate dehydrogenase-A-subunit (LDH-A; muscle) deficiency. Enzyme activities of LDH in the muscle were decreased less than 8% of the control value. The isozyme pattern revealed only one band of B4. The level of LDH-A mRNA was not decreased. The direct sequencing of the reverse transcription-polymerase chain reaction product that corresponds to exon 6 revealed a deletion of 20 nucleotides. Immunofluorescence staining showed the presence of LDH-A protein within the cytoplasm. These findings suggest that an incomplete LDH-A protein lacking the subunit contact subdomain could not assemble into a tetrameric structure that has an enzymatic activity.
    [Abstract] [Full Text] [Related] [New Search]