P.267Modifiers of respiratory and cardiac function in the Italian Duchenne muscular dystrophy network and CINRG Duchenne natural history study

We tested the effects of glucocorticoids (GCs) and genetic factors on respiratory and cardiac function in a large DMD cohort followed by the Italian DMD network, with validation in the CINRG Duchenne natural history study (DNHS). The Italian cohort comprised 327 patients with spirometric data and 374 with echocardiographic data (mean follow-up 4.5 and 2.6 years respectively). We used generalized estimating equations to evaluate effects of DMD mutation types (involving or sparing the isoform Dp140; amenable to skipping of exons 8, 44, 45, 51, and 53; nonsense) and SNP modifiers: rs28357094 (SPP1 promoter, dominant), rs10880 (LTBP4 missense, recessive), rs1883832 (CD40 5 ′UTR, additive), and rs1815739 (ACTN3 nonsense, additive).

Source: Neuromuscular Disorders - September 30, 2019 Category: Neurology Authors: L. Bello, G. D'Angelo, C. Bruno, A. Berardinelli, G. Comi, A. D'Amico, G. Astrea, L. Politano, G. Baranello, V. Sansone, S. Previtali, G. Vita, T. Mongini, A. Pini, E. Mercuri, C. Calore, A. Vianello, E. Hoffman, C. McDonald, E. Pegoraro Source Type: research