کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5595804 | 1573113 | 2017 | 31 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Limb-Girdle Muscular Dystrophy 2B and Miyoshi Presentations of Dysferlinopathy
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موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
کاردیولوژی و پزشکی قلب و عروق
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چکیده انگلیسی
We report the following 2 subtypes of progressive limb-girdle dystrophy type 2B: limb-girdle muscular dystrophy type 2B (LGMD2B) and Miyoshi. The first patient described had weakness in the anterior thigh muscles (LGMD2B) and the second patient had calf muscle weakness and atrophy (Miyoshi). Literature review was performed and LGMD2B was compared and distinguished from other myopathies of similar nature. Genetic testing with polymerase chain reaction analysis of the DYSF gene confirmed the diagnosis in both patients. Additional findings of histopathology, specific stain for sarcolemmal membrane protein, Western blot analysis and clinical presentation clinched the diagnosis further of dysferlinopathy (LGMD2B) in both our patients. Currently, there is no definitive treatment on the horizon and immunosuppressive therapy is not recommended for this condition. Gene therapy may have a future role, but at present, muscle-strengthening exercises and patient awareness are the mainstays.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The American Journal of the Medical Sciences - Volume 353, Issue 5, May 2017, Pages 484-491
Journal: The American Journal of the Medical Sciences - Volume 353, Issue 5, May 2017, Pages 484-491
نویسندگان
Nirupa J. MD, Kenneth W. DO, Luis R. MD,