volume 6, issue 3, P231-245 2014
DOI: 10.18632/aging.100649
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Marta Seco-Cervera, Marta Spis, José Luis García-Giménez, José Santiago Ibañez-Cabellos, Ana Velázquez-Ledesma, Isabel Esmorís, Sergio Bañuls, Giselle Pérez-Machado, Federico V Pallardó

Abstract: Werner Syndrome (WS, ICD-10 E34.8, ORPHA902) and Atypical Werner Syndrome (AWS, ICD-10 E34.8, ORPHA79474) are very rare inherited syndromes characterized by premature aging. While approximately 90% of WS individuals have any of a range of mutations in the WRN gene, there exists a clinical subgroup in which the mutation occurs in the LMNA/C gene in heterozygosity. Although both syndromes exhibit an age-related pleiotropic phenotype, AWS manifests the onset of the disease during childhood, while major symptoms i…

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