Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy

1 August 1998

journal article
case report
Published by Wolters Kluwer Health in Neurology

Vol. 51 (2) , 592-595
https://doi.org/10.1212/wnl.51.2.592

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.

Keywords

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