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- Title
Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica.
- Authors
Kim, J; Hahn, Y; Sohn, E H; Lee, Y J; Yun, J H; Kim, J M; Chung, J H
- Abstract
Patients with paralysis periodica paramyotonica exhibit a clinical syndrome with characteristics of both hyperkalaemic periodic paralysis and paramyotonia congenita. In several types of periodic paralysis associated with hyperkalaemia, mutations in the skeletal muscle sodium channel (SCN4A) gene have been previously reported. Phenotypic variations of mutations in SCN4A, however, have not been described yet. The present study aimed to evaluate genetic variations in a family with clinical and electrophysiological characteristics of paralysis periodica paramyotonia.
- Publication
Journal of neurology, neurosurgery, and psychiatry, 2001, Vol 70, Issue 5, p618
- ISSN
0022-3050
- Publication type
Journal Article
- DOI
10.1136/jnnp.70.5.618