Peripheral nerve dystroglycan: its function and potential role in the molecular pathogenesis of neuromuscular diseases

Multiple techniques are available to study failure of neuromuscular transmission. Electrophysiological techniques used in patients are well suited to detect failure of neuromuscular transmission; however, these methods offer little insight into the mechanisms underlying failure of transmission. More detailed techniques that are better suited for studying the underlying mechanisms can be perform...

cordingly, slowing of the maximum relaxation rate (MRR) of inspiratory muscles during short and sharp sniffs is considered to be an index of inspiratory muscle fatigue [5] . Sniff MRR is commonly calculated from esophageal pressure traces; however, a non-invasive and reliable measure of inspiratory muscle MRR can be obtained by measuring sniff nasal pressure [6] . This non-invasive technique ha...

The clinical practice of neuromuscular disease is currently undergoing enormous change as a direct result of the wealth of recent molecular genetic discoveries. Indeed, the majority of gene discoveries in the area of neurological disease relate to neuromuscular disorders. The immediate impact of these discoveries is that a precise DNA based diagnosis is possible. This often gives patients accur...

noncompaction of the ventricular myocardium is an embryonic cardiomyopathy that is increasingly being recognized. noncompaction of lv myocardium, right ventricular myocardium, or both can occur in isolation, in congenital heart diseases, in valvular heart diseases, in neuromuscular disorders, skeletal abnormalities and in endocrinologic abnormalities. clinical manifestations of ventricular non-...