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

30 Citations (Scopus)

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

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Dystrophin
Muscular Dystrophies
Cataract
Inbred mdx Mouse
Duchenne Muscular Dystrophy
Genetic Therapy
Exons
Glycoproteins

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mirabella, M., Galluzzi, G., Manfredi, G., Bertini, E., Ricci, E., De Leo, R., ... Servidei, S. (1998). Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology, 51(2), 592-595.

Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. / Mirabella, M.; Galluzzi, G.; Manfredi, G.; Bertini, E.; Ricci, E.; De Leo, R.; Tonali, P.; Servidei, S.

In: Neurology, Vol. 51, No. 2, 08.1998, p. 592-595.

Research output: Contribution to journalArticle

Mirabella, M, Galluzzi, G, Manfredi, G, Bertini, E, Ricci, E, De Leo, R, Tonali, P & Servidei, S 1998, 'Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy', Neurology, vol. 51, no. 2, pp. 592-595.
Mirabella M, Galluzzi G, Manfredi G, Bertini E, Ricci E, De Leo R et al. Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. Neurology. 1998 Aug;51(2):592-595.
Mirabella, M. ; Galluzzi, G. ; Manfredi, G. ; Bertini, E. ; Ricci, E. ; De Leo, R. ; Tonali, P. ; Servidei, S. / Giant dystrophin deletion associated with congenital cataract and mild muscular dystrophy. In: Neurology. 1998 ; Vol. 51, No. 2. pp. 592-595.
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