Abstract Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on male patient from Neonatal Intensive Care Unit, who presented of myopathy. After eliminating many other possible causes, he was eventually proven to bear c.197C&g...

In this paper, we propose an algorithm for the channel routing problem based on genetic approach that uses a new type of mutation, called inter-cluster mutation . The performance of genetic algorithmbased channel router is improved by incorporating problem-specific knowledge into the inter-cluster mutation operators. A solution of the channel routing problem is represented by horizontal non-con...

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy of the peripheral nervous system with a wide range of severity and age of onset. CMT patients share similar phenotypes which make it often impossible to identify the disease types based on clinical presentation and electrophysiological studies alone. In recent years, novel genetic diagnostic approaches such as whole exom...

Introduction: Congenital long QT syndrome (LQTS) is a cardiac disorder characterized by QT interval prolongation at basal ECG. Different LQTS genes encode ion channel subunits or proteins involved in regulating cardiac ionic currents. Long QT syndrome type 6 (LQT6) is caused by mutation in the KCNE2 gene. Our research aimed to analyze genetic variants of KCNE2 gene causing the disease in Irania...

Background The immotile short tail sperm (ISTS) defect is one of the disorders that cause male infertility. Men with this condition have immotile short-tail sperm with structural defects in the fibrous sheath(FS). A Kinase Anchoring Protein 4 (AKAP4) is one of the most abundant proteins in the fibrous sheathof sperm flagella and provides scaffold for the correct assembly of FS.Since exon 6 of A...

Background and Aims: One of the neurotransmitters in the brain is Histamine which acts as several biological mechanism regulators like inflammation, gastric acid secretion, and neuromodulation. Inactivation of Histamine occurs by histamine N-methyltransferase (HNMT) enzyme. The HNMT transfers a methyl group from S-adenosyl-L-methionine to Histamine and is the main process for the termination of...

Objective(s):Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. Materials and Methods:A total of 218 alleles from 40 PKU...