Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 47 12 2018 12 01 1953 1957 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 2018 12 05 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.   https://ijph.tums.ac.ir/index.php/ijph/article/view/15526 https://ijph.tums.ac.ir/index.php/ijph/article/download/15526/6239