Genetic disorders of neuromuscular ion channels.
Ion channels are complex proteins that span the lipid bilayer of the cell membrane, where they orchestrate the electrical signals necessary for normal function of the central nervous system, peripheral nerve, and both skeletal and cardiac muscle. The role of ion channel defects in the pathogenesis of numerous disorders, many of them neuromuscular, has become increasingly apparent over the last decade. Progress in molecular biology has allowed cloning and expression of genes that encode channel proteins, while comparable advances in biophysics, including patch-clamp electrophysiology and related techniques, have made the study of expressed proteins at the level of single channel molecules possible. Understanding the molecular basis of ion channel function and dysfunction will facilitate both the accurate classification of these disorders and the rational development of specific therapeutic interventions. This review encompasses clinical, genetic, and pathophysiological aspects of ion channels disorders, focusing mainly on those with neuromuscular manifestations.
Kleopa
Kleopas A
KA
Department of Neurology, University of Pennsylvania School of Medicine, 122 College Hall, Philadelphia, PA 19104, USA.
Barchi
Robert L
RL
D006801:Humans; D007473:Ion Channels / Q000737:chemistry / Q000235:genetics*; D009468:Neuromuscular Diseases / Q000235:genetics* / Q000503:physiopathology*
D007473:Ion Channels