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: Frame-shift deletions in patients with Duchenne and Becker muscular dystrophy.
    Author: Malhotra SB, Hart KA, Klamut HJ, Thomas NS, Bodrug SE, Burghes AH, Bobrow M, Harper PS, Thompson MW, Ray PN.
    Journal: Science; 1988 Nov 04; 242(4879):755-9. PubMed ID: 3055295.
    Abstract:
    Duchenne muscular dystrophy (DMD) and its less severe form Becker muscular dystrophy (BMD) are allelic disorders. It has been suggested that in the mutations involving BMD, the translational reading frame of messenger RNA is maintained and a smaller, though partially functional, protein is produced. In order to test this, the exon-intron boundaries of the first ten exons of the DMD gene were determined, and 29 patients were analyzed. In a number of BMD patients (mild and severe BMD), the reading frame of messenger RNA was not maintained. On the basis of these findings, a model for reinitiation from an internal start codon is suggested.
    [Abstract] [Full Text] [Related] [New Search]