Mutations in genes can lead to a variety of phenotypes, including various human diseases. Students often understand that particular mutation single gene causes disease phenotype, but it is more challenging illustrate complex genetic concepts such as similar mutations the same cause very different phenotypes or different phenotypes. We originally designed this lesson build off Cours...

the aim of this study was to determine the effect of eight-week resistance training on muscular strength and balance in men with multiple sclerosis (ms). for this purpose, out of 40 ms patients in iran ms society, 18 patients (mean age 34.05±7.8 yrs; mean expanded disability status scale 2.94±1.54 score; mean weight 67.83±11.58 kg; and mean body mass index 22.40±3.81kg/m2) were randomly divided...

Progressive weakness and degeneration of skeletal muscles caused by genetic alterations fall into the category of muscular dystrophy. Muscular dystrophy occurs worldwide and affects all races. The overall incidence of muscular dystrophy varies among forms, as some forms are more common than others. Muscle loss and weakness are not necessarily caused by genetic alteration. Skeletal muscle inacti...

BACKGROUND Mutations of the lamin A/C gene have been associated with several diseases such as Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy and Charcot-Marie-Tooth disease, referred to as laminopathies. Only one report of spinal muscular atrophy and cardiomyopathy phenotype with lamin A/C gene mutations has been published. The concept that lamin A/C gene mutations cause spinal muscu...

in this report we are going to discuss the following subjects: 1. indications of muscle biopsy in which situation it can not be helpful. 2. how to take a muscle biopsy? 3. how a muscle biopsy should be operated? 4. which techniques do we need to read and interpret a muscle biopsy histologically (h & e staining, histochemical study, electron microscopy). 5. muscle disease histopathologic changes...

how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22.   obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...

Electromyoneurography (EMNG) is a unique method for testing muscle and nerve function and is, therefore, of crucial significance in the assessment of various diseases of the peripheral nervous system. In clinical practice, neurophysiologic examination is most frequently the initial step in the assessment of patients suspected of having muscle weakness of peripheral origin. The EMNG studies not ...

how to cite this article: rashnonejad a, onay h, atik t, atan sahin o, gokben s, tekgul h, ozkinay f. molecular genetic analysis of survival motor neuron gene in 460 turkish cases with suspicious spinal muscular atrophy disease. iran j child neurol. autumn 2016; 10(4):30-35. abstract objective to describe 12 yr experience of molecular genetic diagnosis of spinal muscular atrophy (sma) in 460 ca...