Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy

M. Mirabella, G. Galluzzi, G. Manfredi, E. Bertini, E. Ricci, R. De Leo, P. Tonali, S. Servidei

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)592-595
Number of pages4
JournalNeurology
Volume51
Issue number2
Publication statusPublished - Aug 1998

ASJC Scopus subject areas

  • Neuroscience(all)

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