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Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C)
المؤلفون المشاركون
Swaika, Abhisek
Boczek, Nicole J.
Sood, Neha
Guthrie, Kimberly
Klee, Eric W.
Agrawal, Ankit
Dimberg, Elliot L.
Ailawadhi, Sikander
المصدر
العدد
المجلد 2016، العدد 2016 (31 ديسمبر/كانون الأول 2016)، ص ص. 1-4، 4ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2016-04-19
دولة النشر
مصر
عدد الصفحات
4
التخصصات الرئيسية
الملخص EN
Dysferlinopathy is an uncommon, progressive muscular dystrophy that has a wide phenotypic variability and primarily supportive management (Nguyen et al., 2007; Narayanaswami et al., 2014).
Amyloid myopathy is a distinct, rare disorder that can present similarly to inflammatory myopathies and requires a high clinical suspicion for early intervention to prolong survival.
Amyloid myopathy is typically associated with other systemic manifestations of amyloidosis, but rare cases of isolated amyloid myopathy have been described (Mandl et al., 2000; Hull et al., 2001).
Positive Congo red stains on tissue biopsy remain the gold standard for diagnosis (Spuler et al., 1998; Karacostas et al., 2005).
A high clinical suspicion and meticulous diagnostic workup that includes novel techniques are necessary for identifying these rare disorders.
We report a middle-aged man with progressive leg muscle weakness who was initially treated as having amyloid myopathy but was later diagnosed as having dysferlinopathy by Whole Exome Sequencing (WES) analysis.
We also report a novel missense mutation (c.959G>C) to help correlate in any patient with presumed dysferlinopathy and to add to the already known genotype of this disorder.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Swaika, Abhisek& Boczek, Nicole J.& Sood, Neha& Guthrie, Kimberly& Klee, Eric W.& Agrawal, Ankit…[et al.]. 2016. Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). Case Reports in Genetics،Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1100762
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Swaika, Abhisek…[et al.]. Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). Case Reports in Genetics No. 2016 (2016), pp.1-4.
https://search.emarefa.net/detail/BIM-1100762
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Swaika, Abhisek& Boczek, Nicole J.& Sood, Neha& Guthrie, Kimberly& Klee, Eric W.& Agrawal, Ankit…[et al.]. Whole Exome Sequencing Leading to the Diagnosis of Dysferlinopathy with a Novel Missense Mutation (c.959G>C). Case Reports in Genetics. 2016. Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1100762
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1100762
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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