[Muscular genetic disorders caused by abnormal membrane excitability].
Ion channels are transmembrane proteins which enable ion exchanges between the inner and the outer part of the cell. During evolution, the property of ligand- or voltage-gating conferred cell excitability which permitted intercellular communication. The study of muscle diseases, periodic paralysis and myotonia, has led to the discovery of mutations in the genes encoding ion channels. The analysis of the functional consequences on muscle membrane gave insight into pathophysiology. A loss of function of sodium or calcium channels leads to hypokalaemic periodic paralysis. A gain of function of sodium channel results in hyperkalaemic periodic paralysis or paramyotonia, depending of its level. It is also known that mutations in other genes can cause membrane excitatibility such as the gene encoding perlecan (Schwartz-Jampel syndrome). The study of muscle channelopathies has opened a new field in neurological disorders. Molecular diagnosis is now possible and the efficacy of treatments is better understood.
Fédération de Neurologie et INSERM U546, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. bertrand.fontaine@psl.ap-hop-paris.fr
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D006801:Humans; D015640:Ion Channel Gating / Q000235:genetics / Q000502:physiology; D007473:Ion Channels / Q000235:genetics / Q000502:physiology*; D008566:Membranes / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics* / Q000503:physiopathology
D007473:Ion Channels