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العنوان
Genetics of Muscular Dystrophies :
المؤلف
Mohamed, Mohamed Bahgaat Mohamed.
هيئة الاعداد
باحث / Mohamed Bahgaat Mohamed Mohamed
مشرف / Abd El-Raouf Omar
مشرف / Wail Talaat Soliman
مناقش / Refaat Mahfouz Mahmoud
مناقش / Amal Tawfik Mohamed
الموضوع
Nervous system - Diseases - Molecular aspects. Nervous system - Diseases - Genetic aspects. Molecular neurobiology. Neurogenetics. Nervous System Diseases - Genetics. Mental Disorders - Genetics.
تاريخ النشر
2004.
عدد الصفحات
122 p. :
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
الطب النفسي والصحة العقلية
تاريخ الإجازة
1/1/2004
مكان الإجازة
جامعة المنيا - كلية الطب - Neurology and Psychiatry.
الفهرس
Only 14 pages are availabe for public view

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Abstract

The aim of this study is to review the literature about the genetics of muscuslar dystrophies and its implications for diagnosis and treatment.
Conclusion
Muscular dystrophies are a genetically heterogeneous group of degenerative muscle disorders. Many genes are known to give rise to various forms of muscular dystrophy, which differ in age of onset, severity, and muscle groups affected. The number of genes identified increases each year, adding to our understanding as well as revealing the overall complexity of the pathogenesis of these diseases.
Classification of the muscular dystrophies is by no means academic as it is the only safe guide to prognosis and genetic counseling. It is mainly clinico-genetic classification.
Despite the decades of intensive research into the cause of muscular dystrophy, the nature of the basic defect remained elusive until the cloning of the gene, which allowed the identification of the defective protein. Even with this new knowledge, the biological role of these poroteins remains somewhat speculative and our understanding of the disease remains incomplete.