| Autor: |
J, Trip, G, Drost, H B, Ginjaar, B G M, van Engelen, C G, Faber |
| Jazyk: |
Dutch; Flemish |
| Rok vydání: |
2005 |
| Předmět: |
|
| Zdroj: |
Nederlands tijdschrift voor geneeskunde. 149(38) |
| ISSN: |
0028-2162 |
| Popis: |
Channelopathies are a heterogeneous group of genetic diseases in which a defective ion channel is responsible for the symptoms. They manifest as diseases of the heart, brain or skeletal muscle. Hereditary skeletal-muscle channelopathies are characterised by myotonia, periodic paralysis or a combination of both and can be categorised as chloride, sodium and calcium channelopathies. When there is myotonia, the skeletal-muscle membrane is overexcited. In cases of periodic paralysis, the skeletal-muscle membrane is inactive. It is difficult to classify hereditary muscle channelopathies on the basis of clinical criteria only. A more reliable diagnosis is made using DNA analysis. Scientific research should focus on genotype-phenotype relationships. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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