Article
Genetic Modifiers of Duchenne Muscular Dystrophy and Dilated Cardiomyopathy.
PloS one - 1 Jan 2015
Barp Andrea, Bello Luca, Politano Luisa, Melacini Paola, Calore Chiara, Polo Angela, Vianello Sara, Sorarù Gianni, Semplicini Claudio, Pantic Boris, Taglia Antonella, Picillo Ester, Magri Francesca, Gorni Ksenija, Messina Sonia, Vita Gian Luca, Vita Giuseppe, Comi Giacomo P, Ermani Mario, Calvo Vincenzo, Angelini Corrado, Hoffman Eric P, Pegoraro Elena
Abstract excerpt
OBJECTIVE: Dilated cardiomyopathy (DCM) is a major complication and leading cause of death in Duchenne muscular dystrophy (DMD). DCM onset is variable, suggesting modifier effects of genetic or environmental factors. We aimed to determine if polymorphisms previously associated with age at loss of independent ambulation (LoA) in DMD (rs28357094 in the SPP1 promoter, rs10880 and the VTTT/IAAM haplotype in LTBP4)...
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