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Is the Duchenne muscular dystrophy gene also an X-linked retinitis pigmentosa locus?
1Department of Pediatrics, University of California, Los Angeles 90095, USA.
Molecular Genetics and Metabolism
|June 2, 2000
Abstract:
Deletion mutations and linkage mapping have localized an X-linked retinitis pigmentosa locus to Xp21, and a disease gene (RPGR) has been characterized. However, mutations have not been identified in most families expected to segregate the disease at this locus. Here, a retina-specific mRNA transcript from the Duchenne muscular dystrophy gene is identified. Based on these data, it is hypothesized that the Duchenne muscular dystrophy gene may represent a second Xp21 site at which retinitis pigmentosa mutations occur.