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Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene
المؤلفون المشاركون
Xie, Zhiying
Xiao, Jiangxi
Zheng, Yiming
Wang, Zhaoxia
Yuan, Yun
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-10، 10ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-05-29
دولة النشر
مصر
عدد الصفحات
10
التخصصات الرئيسية
الملخص EN
Limb girdle muscular dystrophy type 2I (LGMD2I) is an autosomal recessive muscular dystrophy that is rare in Asia and is caused by mutations in the fukutin-related protein gene (FKRP).
The aim of this study was to determine if there are any characteristic features of muscle on magnetic resonance imaging (MRI) in patients with LGMD2I harboring the founder mutation c.545A>G in FKRP.
Using MRI, we delineated changes in the thigh muscles of ten patients with genetically confirmed LGMD2I.
The majority of muscle biopsy specimens showed reduced glycosylation of α-dystroglycan, decreased expression of laminin α2, and a dystrophic pattern.
In our cohort, the muscles with the most severe fatty infiltration were adductor magnus and vastus intermedius, whereas the rectus femoris, sartorius, and gracilis muscles were relatively spared.
In seven patients, we identified a concentric fatty infiltration pattern that was most pronounced in the vastus intermedius and vastus medialis muscles around the distal femoral diaphysis.
In this disease, the initial fatty infiltration of the posterior thigh muscles gradually progresses anteriorly regardless of the founder mutation in FKRP.
Muscle tissue in patients with LGMD2I who have the founder mutation c.545A>G in FKRP shows a distinctive concentric pattern of fatty infiltration and edema on MRI.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Xie, Zhiying& Xiao, Jiangxi& Zheng, Yiming& Wang, Zhaoxia& Yuan, Yun. 2018. Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. BioMed Research International،Vol. 2018, no. 2018, pp.1-10.
https://search.emarefa.net/detail/BIM-1126029
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Xie, Zhiying…[et al.]. Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. BioMed Research International No. 2018 (2018), pp.1-10.
https://search.emarefa.net/detail/BIM-1126029
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Xie, Zhiying& Xiao, Jiangxi& Zheng, Yiming& Wang, Zhaoxia& Yuan, Yun. Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-10.
https://search.emarefa.net/detail/BIM-1126029
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1126029
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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