[The spectrum of hereditary skeletal-muscle channelopathies]. / Het spectrum van de erfelijke skeletspierkanalopathieën.
Ned Tijdschr Geneeskd
; 149(38): 2093-8, 2005 Sep 17.
Article
in Nl
| MEDLINE
| ID: mdl-16201598
ABSTRACT
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.
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Collection:
01-internacional
Database:
MEDLINE
Main subject:
Musculoskeletal Diseases
/
Muscle, Skeletal
/
Ion Channels
/
Metabolism, Inborn Errors
Limits:
Humans
Language:
Nl
Journal:
Ned Tijdschr Geneeskd
Year:
2005
Type:
Article