Article
SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.
Neurology - 18 Jan 2011
Pegoraro E, Hoffman E P, Piva L, Gavassini B F, Cagnin S, Ermani M, Bello L, Soraru G, Pacchioni B, Bonifati M D, Lanfranchi G, Angelini C, Kesari A, Lee I, Gordish-Dressman H, Devaney J M, McDonald C M
Abstract excerpt
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...
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