Coverage among the Spanish elderly has increased significantly from 1993 to 2003. Still, there is room for improvement, particularly, among the subjects with 'good' self-perceived health, those with no concomitant medical conditions, and smokers.
The prevalent p.Gln154Arg mutation is first reported in this work and presents a common origin in Spanish patients with XLRS. In addition, de novo mutations mainly occur in CG dinucleotides. Despite the large mutational spectrum and variable phenotypes, no genotype-phenotype correlations were found. Identifying the causative mutation is helpful in confirming diagnosis and counseling, but cannot provide a prognosis.
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