Background Muscular dystrophies comprise a heterogeneous group of inherited diseases that are characterized by progressive muscle weakness and degeneration. Severe forms, e.g. Duchenne muscular dystrophy (DMD), which is caused by a mutation in the dystrophin gene, lead to loss of ambulation, respiratory failure, and premature death. In many types of the muscular dystrophies the cardiac muscle i...

Abstract Muscular dystrophies are devastating and untreatable genetic diseases leading to progressive muscle degeneration weakness. The expanding landscape of CRISPR-Cas-based genome editing tools allows the in situ repair many disease-causing mutations patient cells an unprecedented manner. Here, I discuss recent advances challenges for using gene edited stem autologous cell replacement therap...

Spinal muscular atrophy (SMA) is a neuromuscular disorder characterized by degeneration of alpha motor neurons resulting in hypotonia, progressive muscular weakness and atrophy.30 Spinal muscular atrophy is one of the leading hereditary causes of infant mortality,31 it comprises the second most common fatal progressive diseases after cystic fibrosis.28 Spinal muscular atrophy is the most common...

Background: The association of limb-girdle muscular dystrophy (LGMD) with other neurological disorders is uncommon. Case presentation: We report a 25-year-old female with LGMD who suffered from slowly progressive proximal muscular weakness and atrophy since she was 12 years of age. The patient recently presented with acute loss of left side visual acuity. After evaluation, findings were sugges...

Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle wasting and weakness. Although these diseases have been clinically recognized for a number of years, genetic defects in a number of muscular dystrophies have only recently been identified. One of the most important advances in understanding the molecular genetics of neu...

Muscular diseases lead to muscle fiber degeneration, impairment of mobility, and in some cases premature death. Many of these muscular diseases are largely idiopathic. The goal of this study was to identify biomarkers based on their functional role and possible mechanisms of pathogenesis, specific to individual muscular disease. We analyzed the muscle transcriptome from five major muscular dise...

Muscular dystrophies are a group of diseases that primarily affect skeletal muscle and are characterized by progressive muscle wasting and weakness. Although these diseases have been clinically recognized for a number of years, genetic defects in a number of muscular dystrophies have only recently been identified. One of the most important advances in understanding the molecular genetics of neu...

Muscular dystrophy is a hereditary and progressive degenerative disorder affecting skeletal muscles, and often-other organ systems (1). The real burden of muscular dystrophy in Malaysia is difficult to estimate, since the epidemiological data for each of muscular dystrophies and even for muscular dystrophies in collective are not available. There are not many researches focusing on muscular dys...