Genetic modifiers of ambulation in the CINRG duchenne natural history study
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چکیده
Genetic modifiers of ambulation in the CINRG duchenne natural history study.
منابع مشابه
Genetic modifiers of ambulation in the cooperative international Neuromuscular research group Duchenne natural history study
OBJECTIVE We studied the effects of LTBP4 and SPP1 polymorphisms on age at loss of ambulation (LoA) in a multiethnic Duchenne muscular dystrophy (DMD) cohort. METHODS We genotyped SPP1 rs28357094 and LTBP4 haplotype in 283 of 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). Median ages at LoA were compared by Kaplan-Me...
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UNLABELLED Contemporary natural history data in Duchenne muscular dystrophy (DMD) is needed to assess care recommendations and aid in planning future trials. METHODS The Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study (DMD-NHS) enrolled 340 individuals, aged 2-28 years, with DMD in a longitudinal, observational study at 20 centers. Assessments obtained...
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OBJECTIVE We aimed to perform an observational study of age at loss of independent ambulation (LoA) and side-effect profiles associated with different glucocorticoid corticosteroid (GC) regimens in Duchenne muscular dystrophy (DMD). METHODS We studied 340 participants in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study (CINRG-DNHS). LoA was defined as ...
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INTRODUCTION Cardiomyopathy is a common cause of morbidity and death in patients with Duchenne muscular dystrophy (DMD). METHODS This investigation was a cross-sectional cross-sectional analysis of clinical data from the multi-institutional Cooperative International Neuromuscular Research Group (CINRG) DMD Natural History Study of 340 DMD patients aged 2-28 years. Cardiomyopathy was defined a...
متن کاملThe 6-minute Walk Test and Other Endpoints in Duchenne Muscular Dystrophy: Longitudinal Natural History Observations over 48 Weeks from a Multicenter Study
INTRODUCTION Duchenne muscular dystrophy (DMD) subjects ≥5 years with nonsense mutations were followed for 48 weeks in a multicenter, randomized, double-blind, placebo-controlled trial of ataluren. Placebo arm data (N = 57) provided insight into the natural history of the 6-minute walk test (6MWT) and other endpoints. METHODS Evaluations performed every 6 weeks included the 6-minute walk dist...
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