P2.38 Lower limb muscle MRI in a large cohort of FSHD patients
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چکیده
P2.36 Correlation between muscle involvement, phenotype and D4Z4 fragment size in facioscapulohumeral muscular dystrophy W.C. Liang , C.H. Wang , M. Leung , T.J. Hsieh , T.H. Chen , Y.J. Jong a Kaohsiung Medical University Hospital, Kaohsiung Medical University, Department of Pediatrics, Kaohsiung, Taiwan; Kaohsiung Municipal United Hospital, Department of Pediatrics, Kaohsiung, Taiwan; Kaohsiung Medical University Hospital, Kaohsiung Medical University, Department of Medical Imaging, Kaohsiung, Taiwan; Kaohsiung Medical University Hospital, Kaohsiung Medical University, Department of Emergency Medicine, Kaohsiung, Taiwan
منابع مشابه
Atypical onset in a series of 122 cases with FacioScapuloHumeral Muscular Dystrophy
INTRODUCTION FacioScapuloHumeral Muscular Dystrophy (FSHD), a disease linked to a heterozygous D4Z4 deletion on chromosome 4q35, typically starts with shoulder-girdle and facial muscle involvement. Atypical presentations have occasionally been reported, but their frequency has still not been defined. PATIENTS AND METHODS We studied the occurrence rate of FSHD with atypical onset in 122 sympto...
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Facioscapulohumeral muscular dystrophy (FSHD) is a common muscle disease whose molecular pathogenesis remains largely unknown. Over-expression of FSHD region gene 1 (FRG1) in mice, frogs, and worms perturbs muscle development and causes FSHD-like phenotypes. FRG1 has been implicated in splicing, and we asked how splicing might be involved in FSHD by conducting a genome-wide analysis in FRG1 mic...
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متن کاملUpper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy
BACKGROUND In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. METHODS We propose an MRI protocol evaluating neck and upper girdle ...
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تاریخ انتشار 2011