Several studies provide compelling support for the use of MRI as a sensitive non-invasive method to assess skeletal muscle disease progression in various neuromuscular diseases, including Duchenne muscular dystrophy1,2 and limb girdle muscular dystrophy type 2I.3 In The Lancet Neurology, Jasper Morrow and colleagues4 now report the sensitivity of MRI to track disease progression in 20 patients ...

INTRODUCTION Aortopulmonary window (APW), a large aortopulmonary septal defect (APSD), is a serious and rare defect within congenital heart diseases. CASE REPORT In this study, we reported an APW case with severe pulmonary arterial hypertension. This patient was successfully treated by transcatheter closure with a muscular ventricular septal defect (VSD) occluder. CONCLUSION We had a succes...

Muscular dystrophies are groups of inherited progressive diseases of the muscle caused by mutations of diverse genes related to normal muscle function. Although there is no current effective treatment for these devastating diseases, various molecular strategies have been developed to restore the expressions of the associated defective proteins. In preclinical animal models, both viral and nonvi...

Neuromuscular disorders (NMD) are heterogeneous group of genetic diseases characterized by muscle weakness and wasting. Duchenne Muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) are two of the most common and severe forms in humans and although the molecular mechanisms of these diseases have been extensively investigated, there is currently no effective treatment. However, new gene-ba...

Guanylate cyclase activity has been studied in muscle of normal subjects and of patients suffering from muscular and neuromuscular diseases. In normal tissue a guanylate cyclase activity was found in both soluble and particulate fractions of homogenate. We found also that the kinetic analysis of the enzyme of soluble differed from that of particulate fraction. A decrease of guanylate cyclase ac...

Many genetic neurological diseases result from the dysfunction of single proteins. Genetic therapies aim to modify these disease-associated proteins by targeting the RNA and DNA precursors. This review provides a brief overview of the main types of genetic therapies, with a focus on antisense oligonucleotides (ASOs) and RNA interference (RNAi). We use examples of new genetic therapies for spina...

Myofibrillar protein catabolism has been calculated in a variety of neuromuscular diseases from the amount of 3-methylhistidine excreted in the urine. It was found to be significantly raised in Duchenne type muscular dystrophy, motor neurone disease, polymyositis, and thyrotoxic myopathy. In Becker type muscular dystrophy the level was slightly raised. It was normal in scapuloperoneal and limb...

The muscular dystrophy research community is at a watershed moment. Our understanding of the molecular, cellular, and physiological underpin­ nings of the muscular dystrophies continues to increase and has revealed several therapeutic tar­ gets. For the first time, investigational therapies are reaching the final stages of review by United States regulatory agencies. Yet, as we learn more about...

Lamins, the major components of the nuclear lamina, have gained rapidly increasing interest over the past decade as lamin mutations were found to cause numerous devastating diseases. These laminopathies include Emery–Dreifuss muscular dystrophy (EDMD), dilated cardiomyopathy type 1A, limb-girdle muscular dystrophy type 1B, familial partial lipodystrophy (FPLD), Charcot–Marie–Tooth disease type ...