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OBJECTIVE Duchenne muscular dystrophy (DMD) displays a clinical range that is not fully explained by the primary DMD mutations. Ltbp4, encoding latent transforming growth factor-β binding protein 4, was previously discovered in a genome-wide scan as a modifier of murine muscular dystrophy. We sought to determine whether LTBP4 genotype influenced DMD(More)
Mutations in the DMD gene, encoding the dystrophin protein, are responsible for the dystrophinopathies Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), and X-linked Dilated Cardiomyopathy (XLDC). Mutation analysis has traditionally been challenging, due to the large gene size (79 exons over 2.2 Mb of genomic DNA). We report a very large(More)
Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly in the absence of a family history of dystrophinopathy. We review the clinical and genetic features in 15 manifesting carriers identified among 860 subjects within the United Dystrophinopathy Project, a large clinical dystrophinopathy cohort whose members undergo(More)
AIM It has been suggested, that water exercise is less effective than weight-bearing exercise on land for body fat reduction. METHODS To test this hypothesis 38 middle-aged obese women (25-47% body fat) participated in a 13 week exercise-diet program to compare the effects of aerobic exercise in water versus walking on land on indices of fat reduction and(More)
BACKGROUND AND PURPOSE Specific characteristics of physical activity limitations associated with multiple sclerosis (MS) remain unclear. Our purpose was to examine the impact of MS disability on physical activity behaviors involving ambulation. We also explored relationships among ambulatory activity parameters and clinical measures of gait, balance, and(More)
BACKGROUND AND PURPOSE Resistance exercise via negative, eccentrically induced work (RENEW) has been shown to be associated with improvements in strength, mobility, and balance in multiple clinical populations. However, RENEW has not been reported for individuals with multiple sclerosis (MS). METHODS Nineteen individuals with MS (8 men, 11 women; age mean(More)
Cognitive impairment is prevalent, disabling, and poorly managed in persons with multiple sclerosis (MS). This cross-sectional study examined the associations among physical activity, cognitive processing speed, and learning and memory in 33 persons with MS who underwent neuropsychological assessments and wore a physical activity monitor for 7 days.(More)
Fifty-four multiple sclerosis (MS) patients were randomly assigned to exercise (EX) or nonexercise (NEX) groups. Before and after 15 weeks of aerobic training, aspects of fitness including maximal aerobic capacity (VO2max), isometric strength, body composition, and blood lipids were measured. Daily activities, mood, fatigue, and disease status were measured(More)
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(More)
This study compared the effects of pre-exercise cooling with control water immersions on exercise-induced thermal loads derived from steady-state submaximal exercise. Eight healthy male participants [mean (SEM) age 29 (1) years, maximal oxygen uptake 3.81 (0.74) l x min(-1), and body surface area 1.85 (0.11) m(2)] took part in experiments that included 30(More)