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: [Human creatine kinase deficiency].
    Author: Yamamichi H, Ohkawa J.
    Journal: Rinsho Byori; 2002 Jun; 50(6):576-83. PubMed ID: 12166076.
    Abstract:
    We describe a 56-year-old woman hospitalized under a diagnosis of acute myocardial infarction without an increase in serum creatine kinase(CK) activity during the clinical course. The patient had had no previous muscular symptoms. CK-M protein in the myocardial tissue of the patient was substantially lower(103 +/- 7 ng/mg protein) than that in control myocardial tissue(35,800 +/- 2860 ng/mg protein). Immunoreactive CK-M in the patient tissue sample was 0.3% of the value for the control sample. CK-M mRNA was 53-fold less in the patient sample compared with the control. This very low expression of CK-M mRNA was considered to be the primary reason for CK-M deficiency. Direct sequencing demonstrated a point mutation at residue 54 in exon2, which was specific for the patient. There were no other abnormalities found in the CK-M gene of the patient. This report identifies a molecular abnormality in human CK deficiency and discusses the physiologic relevance of CK-M.
    [Abstract] [Full Text] [Related] [New Search]