Linked Life Data

18380764

Source:http://linkedlifedata.com/resource/pubmed/id/18380764

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2008-4-2
pubmed:abstractText
Here we report the first pediatric case of restrictive cardiomyopathy secondary to a de novo mutation in the cardiac myosin heavy chain gene MYH7. The clinical course is characterized by an early onset of disease, mild hypertrophy of the left ventricle and a very short evolution to death. Because of the location of the mutation in the hinge region between the rod part and the globular head of the myosin molecule, it is possible that restrictive cardiomyopathy resulted from an impairment of flexion/extension of myosin heads during the contraction/relaxation cycle.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
1747-0803
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
3
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
138-43
pubmed:dateRevised
2011-5-5
pubmed:meshHeading
pubmed:articleTitle
A de novo mutation of the beta cardiac myosin heavy chain gene in an infantile restrictive cardiomyopathy.
pubmed:affiliation
Department of Pediatric Cardiology, Groupe Hospitalier Est, Hospices Civils de Lyon, Lyon, France.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't