Pub. Date : 2002 Nov
PMID : 12390967
1 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | While five patients had a clinical diagnosis of myotonia congenita, the patient with the F428S mutation exhibited symptoms characteristic of paramyotonia congenita--a condition usually thought to be caused by mutations in the sodium channel gene SCN4A. | Sodium | sodium voltage-gated channel alpha subunit 4 | Homo sapiens |