Linked Life Data

12552059

Source:http://linkedlifedata.com/resource/pubmed/id/12552059

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2003-1-28
pubmed:abstractText
Paramyotonia congenita (PC) is linked to mutations of the skeletal muscle voltage-gated sodium channel alpha-subunit gene SCN4A. The authors report a family where the proband and three of her four children have PC (mutation R1448C) and present repolarization abnormalities at electrocardiogram. They demonstrate that the SCN4A alpha-subunit gene is expressed in normal human heart. Cardiac consequences of mutations of the SCN4A gene may be insignificant in standard conditions, but critical if patients with PC are treated with drugs inducing QT prolongation.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
AIM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Jan
pubmed:issn
1526-632X
pubmed:author
pubmed:issnType
Electronic
pubmed:day
28
pubmed:volume
60
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
340-2
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
2003
pubmed:articleTitle
Paramyotonia congenita with an SCN4A mutation affecting cardiac repolarization.
pubmed:affiliation
Laboratoire d'Explorations Fonctionnelles, Hôtel-Dieu, Nantes, France. Yann.Pereon@nantes.inserm.fr
pubmed:publicationType
Journal Article, Case Reports