Pub. Date : 2020
PMID : 32411069
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Sodium Channel Myotonia Due to Novel Mutations in Domain I of Nav1.4. | Sodium | sodium voltage-gated channel alpha subunit 4 | Homo sapiens |
| 2 | Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Nav1.4 channel. | Sodium | sodium voltage-gated channel alpha subunit 4 | Homo sapiens |
| 3 | We characterized two novel mutations of the SCN4A gene expanding the knowledge about genetics of mild forms of myotonia, and we present, to our knowledge, the first homozygous patient with sodium channel myotonia. | Sodium | sodium voltage-gated channel alpha subunit 4 | Homo sapiens |