Journal article

SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.

E Pegoraro, EP Hoffman, L Piva, BF Gavassini, S Cagnin, M Ermani, L Bello, G Soraru, B Pacchioni, MD Bonifati, G Lanfranchi, C Angelini, A Kesari, I Lee, H Gordish-Dressman, JM Devaney, CM McDonald, undefined Cooperative International Neuromuscular Research Group

Neurology | Ovid Technologies (Wolters Kluwer Health) | Published : 2011


OBJECTIVE: Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers. METHODS: Two DMD cohorts were used as test and validation groups to define genetic modifiers: a Padova longitudinal cohort (n = 106) and the Cooperative International Neuromuscular Research Group (CINRG) cross-sectional natural history cohort (n = 156). Single nucleotide polymorphisms to be genotyped were selected from mRNA profiling in patients with severe vs mild DMD, and genome-wide association studies in metabolism and polymorphisms influ..

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