Familial cramp due to potassium-aggravated myotonia
Familial cramp due to potassium-aggravated myotonia
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DOI：
10.1136/jnnp.65.4.569
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发表时间：
1998-10-01
影响因子：
11
通讯作者：
Lane, RJM
中科院分区：
文献类型：
--
作者：
Orrell, RW;Jurkat-Rott, K;Lane, RJM
Clinical, electrophysiological, and molecular genetic features were investigated in two patients from a family a with dominantly inherited myotonic disease, characterised by painful cramps, stiffness without weakness, fluctuation of symptoms, and cold sensitivity. A reduction in amplitude of the compound muscle action potential was demonstrated on cooling and administration of potassium, although no clinical exacerbation was seen. A heterozygote mutation Val1589Met was identified in the alpha-subunit of the skeletal muscle sodium channel gene in both patients, consistent with the diagnosis of potassium-aggravated myotonia. The phenotype in this family is much milder than that previously described in another family with a mutation at this site.
