Doris G. Leung

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Facioscapulohumeral muscular dystrophy (FSHD) is a progressive neuromuscular disorder caused by contractions of repetitive elements within the macrosatellite D4Z4 on chromosome 4q35. The pathophysiology of FSHD is unknown and, as a result, there is currently no effective treatment available for this disease. To better understand the pathophysiology of FSHD(More)
Center for Genetic Muscle Disorders, The Kennedy Krieger Institute, USA Osteogenesis Imperfecta and Albright Clinics, The Kennedy Krieger Institute, USA Department of Neurology, The Johns Hopkins School of Medicine, USA Department of Neuroscience, The Johns Hopkins School of Medicine, USA Department of Pediatrics, Division of Pediatric Endocrinology, The(More)
The muscular dystrophies comprise a heterogeneous group of genetic disorders that produce progressive skeletal muscle weakness and wasting. There has been rapid growth and change in our understanding of these disorders in recent years, and advances in basic science are being translated into increasing numbers of clinical trials. This review will discuss(More)
INTRODUCTION Facioscapulohumeral muscular dystrophy (FSHD) is a hereditary disorder that causes progressive muscle wasting. Increasing knowledge of the pathophysiology of FSHD has stimulated interest in developing biomarkers of disease severity. METHODS Two groups of MRI scans were analyzed: whole-body scans from 13 subjects with FSHD; and upper and lower(More)
INTRODUCTION There is little information on magnetic resonance imaging (MRI) phenotypes of Becker muscular dystrophy (BMD). This study presents the MRI phenotyping of the upper and lower extremities of a large cohort of BMD patients. METHODS In this retrospective study, MRI images of 33 BMD subjects were evaluated for severity, distribution, and symmetry(More)
OBJECTIVE Duchenne and Becker muscular dystrophies (DBMD) are allelic disorders caused by mutations in dystrophin. Adults with DBMD develop life-threatening cardiomyopathy. Inhibition of phosphodiesterase 5 (PDE5) improves cardiac function in mouse models of DBMD. To determine whether the PDE5-inhibitor sildenafil benefits human dystrophinopathy, we(More)
OBJECTIVES To determine whether ICU readmission is associated with higher severity of illness scores in adult patients. BACKGROUND Readmissions to the intensive care unit (ICU) are associated with increased costs, morbidity, and mortality. METHODS We performed searches of MEDLINE, EMBASE, and grey literature databases. We selected studies reporting data(More)
A growing body of the literature supports the use of magnetic resonance imaging as a potential biomarker for disease severity in the hereditary myopathies. We performed a systematic review of the medical literature to evaluate patterns of fat infiltration observed in magnetic resonance imaging studies of muscular dystrophy and congenital myopathy. Searches(More)