Author/Authors :
TAGHIZADEH, Eskandar Cellular and Molecular Research Center - Yasuj University of Medical Sciences, Yasuj, Iran , ABDOLKARIMI, Hamed Dept. of Biology - Science and Research Branch Islamic Azad University, Tehran, Iran , BOOSTANI, Reza Dept. of Neurology - Faculty of Medicine - Mashhad University of Medical Sciences, Mashhad, Iran , SADRNABAVI, Arianeh Dept. of Medical Genetics - School of Medicine - Mashhad University of Medical Sciences, Mashhad, Iran
Abstract :
Limb-girdle muscular dystrophies (LGMDs) are a large group of genetic diseases in which there is muscle weak-ness and they are heterogonous diseases. The following study conducted in September 2017 in Mashhad, north-west 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 popula-tion. 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.
