Non-deletion mutations in Egyptian patients with duchenne muscular dystrophy
المؤلفون المشاركون
Shawqi, Rabah M.
al-Sayyid, Sulaf M.
Todorov, Theodor
Zibert, Andree
al-Awbathani, Salim
Schmidt, Hartmut H. J.
المصدر
The Egyptian Journal of Medical Human Genetics
العدد
المجلد 15، العدد 3 (31 يوليو/تموز 2014)، ص ص. 235-240، 6ص.
الناشر
الجمعية المصرية للأمراض الوراثية
تاريخ النشر
2014-07-31
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الموضوعات
الملخص EN
Duchenne muscular dystrophy (DMD) is the most common form of muscular dystrophies affecting approximately 1:3500 male live births.
Deletion of the dystrophin gene accounts for approximately 65% of mutations, duplications occur in 6–10% while the remaining 20–30% are point mutations, small deletion/insertions, or splicing mutations.
Aim: To study non-deletion mutations in a sample of Egyptian patients with DMD as most previous studies focused on deletion mutations.
Patients and methods: The study included 25 patients with DMD from 18 different families from the genetics clinic, Children’s Hospital, Ain Shams University.
Diagnosis was made based on typical clinical findings, high CPK and EMG result.
Molecular analysis included Polymerase Chain Reaction (PCR) followed by multiplex ligation-dependent probe amplification (MLPA) to those patients with no deletion by PCR.
Direct sequencing of the whole dystrophin gene was done to those patients who had no deletion or duplication by the previous 2 methods.
Results: Non-deletion mutation included duplications (5 families (27.8%)) which are higher than previously reported and point mutation (c.583C>T) in only one family.
Deletion mutations were found in 9 families (50%) and no mutation found in 3 families (16.7%).
Interestingly, 60% of the duplications were located in the distal region of the dystrophin gene.
A frame shift mutation
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Shawqi, Rabah M.& al-Sayyid, Sulaf M.& Todorov, Theodor& Zibert, Andree& al-Awbathani, Salim& Schmidt, Hartmut H. J.. 2014. Non-deletion mutations in Egyptian patients with duchenne muscular dystrophy. The Egyptian Journal of Medical Human Genetics،Vol. 15, no. 3, pp.235-240.
https://search.emarefa.net/detail/BIM-388664
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
al-Sayyid, Sulaf M.…[et al.]. Non-deletion mutations in Egyptian patients with duchenne muscular dystrophy. The Egyptian Journal of Medical Human Genetics Vol. 15, no. 3 (Jul. 2014), pp.235-240.
https://search.emarefa.net/detail/BIM-388664
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Shawqi, Rabah M.& al-Sayyid, Sulaf M.& Todorov, Theodor& Zibert, Andree& al-Awbathani, Salim& Schmidt, Hartmut H. J.. Non-deletion mutations in Egyptian patients with duchenne muscular dystrophy. The Egyptian Journal of Medical Human Genetics. 2014. Vol. 15, no. 3, pp.235-240.
https://search.emarefa.net/detail/BIM-388664
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references : p. 239-240
رقم السجل
BIM-388664
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر