Progress with antisense oligonucleotide therapies opens a path for future development

channelopathies are disturbances of the cellular membrane channels function. ion channels are actually membrane-bound proteins that perform key functions in virtually all human cells. these channels play pivotal role in the function of excitable tissues such as muscle and nerve. so channelopathies are diverse clinical entities involving many organs and systems (i.e., endocrine, respiratory, gas...

Neuromuscular Diseases are a heterogeneous molecular, clinical and prognosis group. Progress has been achieved in the understanding and classification of these diseases.Cardiac involvement in neuromuscular diseases namely conduction disorders, ventricular dilatation and dilated cardiomyopathy with its impact on prognosis, is often dissociated from the peripheral myopathy. Therefore, close surve...

Neuromuscular diseases, which encompass disorders that affect muscle and its innervation, are highly heritable. Genetic diagnosis now frequently pinpoints the primary mutation responsible for a given neuromuscular disease. However, the results from genetic testing indicate that neuromuscular disease phenotypes may vary widely, even in individuals with the same primary disease-causing mutation. ...

affected than females [2,6 ]. Bolton pointed out that The uraemic syndrome is characterized by overall 60% of patients receiving haemodialysis for uraemia deterioration of biochemical and physiological funchave neuropathy by electrodiagnostic criteria [2]. The tions in parallel with the progression of renal failure. main symptoms are restless legs, spontaneous cramps, Uraemia results in variabl...