Pub. Date : 1997 Nov
PMID : 9392583
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Mutations in the skeletal muscle voltage-gated sodium channel alpha-subunit gene (SCN4A) have been associated with a spectrum of inherited nondystrophic myotonias and periodic paralyses. | Sodium | sodium voltage-gated channel alpha subunit 4 | Homo sapiens |
| 2 | A novel SCN4A mutation causing the replacement of Val445 in the sixth transmembrane segment of domain 1 with methionine was discovered in all affected individuals and is the likely genetic basis for the syndrome. | Methionine | sodium voltage-gated channel alpha subunit 4 | Homo sapiens |