Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. uri icon

Overview

abstract

  • We report a patient with a large intragenic dystrophin deletion of exons 17-51 inclusive associated with congenital cataract and mild Becker muscular dystrophy. The cataract was similar to the congenital cataract described in the mdx mouse. The loss of 68% of the rod domain including hinge 2 and 3 regions did not adversely affect the correct localization of the dystrophin and the association with the dystrophin-associated glycoprotein complex. This observation may have implications for minigenes suitable for gene therapy.

publication date

  • August 1, 1998

Research

keywords

  • Cataract
  • Dystrophin
  • Gene Deletion
  • Muscular Dystrophies

Identity

Scopus Document Identifier

  • 0031722730

Digital Object Identifier (DOI)

  • 10.1212/wnl.51.2.592

PubMed ID

  • 9710043

Additional Document Info

volume

  • 51

issue

  • 2