این سایت در حال حاضر پشتیبانی نمی شود و امکان دارد داده های نشریات بروز نباشند
Iranian Journal of Public Health، جلد ۴۷، شماره ۱۲، صفحات ۱۹۵۳-۱۹۵۷
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report
چکیده انگلیسی مقاله  Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weakness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, northwest of southern Khorasan Province, Iran reports a four years girl of autosomal recessive LGMD with proximal weakness and myopathy patterns. We detected four new alternations in this patient not reported for our population. One of them was important clinically that exists as unreported homozygous deletion encompassing exon 2 of the Sarcoglycan Beta (SGCB) gene. The use of Next Generation Sequencing (NGS) in the diagnosis of rare genetic pathologies is becoming ever more widespread in clinical practice. We used the NGS method for the first time to analysis the mutation in this family.  
کلیدواژه‌های انگلیسی مقاله
نویسندگان مقاله | Eskandar TAGHIZADEH
Cellular and Molecular Research Center, Yasuj University of Medical Sciences, Yasuj, Iran and Dept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Hamed ABDOLKARIMI
Dept. of Biology, Science and Research Branch, Islamic Azad University, Tehran, Iran


| Reza BOOSTANI
Dept. of Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran


| Arianeh SADRNABAVI
Dept. of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran and Dept. of Medical Genetics, Academic Centers for Education, Culture, and Research (ACECR), Mashhad, Iran and Medical Genetic Research Center (MGRC), School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran
نشانی اینترنتی http://ijph.tums.ac.ir/index.php/ijph/article/view/15526
فایل مقاله اشکال در دسترسی به فایل - ./files/site1/rds_journals/86/article-86-1354075.pdf
کد مقاله (doi)
زبان مقاله منتشر شده
موضوعات مقاله منتشر شده
نوع مقاله منتشر شده
برگشت به: صفحه اول پایگاه   |   نسخه مرتبط   |   نشریه مرتبط   |   فهرست نشریات