Periodic paralysis, myotonia congenita and sarcolemmal ion channels: a success of the candidate gene approach.
The classification of periodic paralyses and myotonic syndromes has been a subject of debates for the last 40 yr. Recent advances in molecular biology have led geneticists to reconsider this old question, using a candidate gene approach. Two groups of disorders have now emerged: (1) muscle sodium channel-associated diseases which include hyperkalemic periodic paralysis and its clinical variants, as well as paramyotonia congenita; (2) muscle chloride channel-associated disorders which comprise both the dominant and recessive form of myotonia congenita. This review is focussed on these recent discoveries.
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Service de Neurologie et de Neuropsychologie, Hôpital de la Salpêtrière, Paris, France.
D005838:Genotype; D006801:Humans; D007473:Ion Channels / Q000378:metabolism*; D009154:Mutation; D009224:Myotonia Congenita / Q000235:genetics* / Q000378:metabolism; D010245:Paralyses, Familial Periodic / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D012508:Sarcolemma / Q000378:metabolism*; D013577:Syndrome
D007473:Ion Channels