rdf:type |
|
lifeskim:mentions |
umls-concept:C0007193,
umls-concept:C0012634,
umls-concept:C0015576,
umls-concept:C0021107,
umls-concept:C0026882,
umls-concept:C0205314,
umls-concept:C0205402,
umls-concept:C0281945,
umls-concept:C0457405,
umls-concept:C0679622,
umls-concept:C0686904,
umls-concept:C1416877
|
pubmed:issue |
6
|
pubmed:dateCreated |
2002-12-17
|
pubmed:abstractText |
The LMNA gene, which encodes the nuclear envelope protein lamin A/C, is thought to be the most common of 8 autosomal disease genes implicated in familial dilated cardiomyopathy (FDC). Each family reported to date has a unique mutation and variable degrees of cardiac conduction system, dilated cardiomyopathy, or skeletal muscle disease.
|
pubmed:grant |
|
pubmed:commentsCorrections |
|
pubmed:language |
eng
|
pubmed:journal |
|
pubmed:citationSubset |
AIM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
1097-6744
|
pubmed:author |
|
pubmed:issnType |
Electronic
|
pubmed:volume |
144
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1081-6
|
pubmed:dateRevised |
2007-11-15
|
pubmed:meshHeading |
pubmed-meshheading:12486434-Adult,
pubmed-meshheading:12486434-Arrhythmias, Cardiac,
pubmed-meshheading:12486434-Cardiomyopathy, Dilated,
pubmed-meshheading:12486434-Female,
pubmed-meshheading:12486434-Humans,
pubmed-meshheading:12486434-Lamin Type A,
pubmed-meshheading:12486434-Male,
pubmed-meshheading:12486434-Middle Aged,
pubmed-meshheading:12486434-Mutation, Missense,
pubmed-meshheading:12486434-Pacemaker, Artificial,
pubmed-meshheading:12486434-Pedigree,
pubmed-meshheading:12486434-Phenotype
|
pubmed:year |
2002
|
pubmed:articleTitle |
A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation.
|
pubmed:affiliation |
Department of Medicine, Oregon Health and Science University, Portland, Ore 97201, USA. hershber@ohsu.edu
|
pubmed:publicationType |
Journal Article,
Research Support, U.S. Gov't, P.H.S.
|