By F. Lehmann-Horn, K. Jurkat-Rott
This publication describes human hereditary ion channel ailments of voltage- and ligand-gated ion channels overlaying the various fields of medication myology, neurology, cardiology, and nephrology requiring a large and interdisciplinary readership. attention-grabbing parallels in pathogenetic mechanisms of affliction are specifically emphasised to curiosity even hugely really good readers in entities outdoor in their fields. every one writer has written an aim review of his or her specific topic in a manner that are supposed to permit the reader inside of a brief time period to procure a accomplished photograph of the current country of artwork.
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1991a. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am. J. Hum. Genet. 49, 851±854. , 1991b. Identi®cation of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 7, 1021±1027. , 1992a. Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron 8, 891±897. , 1992b. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 42, 431±433. , 1994a. Sodium channel mutations in acetazolamide±responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis.
1992b. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology 42, 431±433. , 1994a. Sodium channel mutations in acetazolamide±responsive myotonia congenita, paramyotonia congenita and hyperkalemic periodic paralysis. Neurology 44, 1500±1503. , 1994b. Dihydropyridine receptor mutations cause hypokalemic periodic paralysis. Cell 77, 863±868. , 1997. Defective fast inactivation recovery and deactivation account for sodium channel myotonia in the I1160V mutant. Biophys. J. 73, 1896±1903.
The myotonia decreases or vanishes completely as the same movement is repeated several times (`warm-up phenomenon'), but it always recurs after a few minutes of rest. The patient may experience much dif®culty while getting up from a chair or stepping into a bus in a hurry. Occasionally a sudden noise may cause instantaneous generalized stiffness. The patient may then fall to the ground and remain rigid and helpless for some seconds or even minutes. Some patients have hypertrophied muscles and an athletic appearance (Fig.