Electrophysiological studies in patients with seropositive/seronegative myasthenia gravis.

Myasthenia gravis (MG) affects the neuromuscular transmission, causing fluctuating muscle weakness and fatigue. This study is carried out with the aim to study the electrophysiologic findings of different subtypes of MG referred to our center in Tehran, Iran. All patients with MG presenting to neurology department of Shariati Hospital, Tehran University of Medical Sciences were enrolled.

Distinct Clinical and Genetic Findings in Iranian Patients With Glycogen Storage Disease Type 3.

Objectives: Glycogen storage disease type 3 (GSD-III) is a rare inherited metabolic disorder caused by glycogen debranching enzyme deficiency. Various pathogenic mutations of the AGL gene lead to abnormal accumulation of glycogen in liver, skeletal, and cardiac muscles. Here, we report distinct clinical and genetic data of Iranian patients with GSD-III.

Late-onset pompe disease in Iran: A clinical and genetic report.

Introduction: Pompe disease is characterized by absence or deficiency of acid α-glucosidase, and several causative mutations are known. In this study we report clinical and laboratory data in Iranian patients with late-onset Pompe disease (LOPD), focusing on population-specific mutations.

Methods: Clinical and laboratory data of 14 patients from 10 families with the diagnosis of LOPD were recorded.

What is Susac syndrome? - A brief review of articles.

Susac's syndrome (SS) is a clinical triad of encephalopathy, branch retinal artery occlusion and sensorineural hearing loss and maybe due to an immune-mediated endotheliopathy. Because of its rarity and some similarities to other common neurological conditions such as multiple sclerosis and acute disseminated encephalomyelitis, it is often misdiagnosed and therefore mistreated. To the best of our knowledge, there is only one case report from our country with this diagnosis.