|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
5
|
|
pubmed:dateCreated |
2006-8-18
|
|
pubmed:abstractText |
Primary desminopathies are caused by desmin gene [DES (MIM*125660)] mutations. The clinical spectrum includes pure myopathies, cardiomuscular diseases and cardiomyopathies. Patients with restrictive cardiomyopathy (RCM) plus atrioventricular block (AVB) due to DES defects are frequently unrecognized unless desmin accumulation is specifically investigated in endomyocardial biopsy (EMB) by ultrastructural study.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Aug
|
|
pubmed:issn |
1388-9842
|
|
pubmed:author |
pubmed-author:ArbustiniEloisaE,
pubmed-author:AzanGaetanoG,
pubmed-author:BelliniOrnellaO,
pubmed-author:CampanaCarloC,
pubmed-author:GrassoMauriziaM,
pubmed-author:PasottiMicheleM,
pubmed-author:PellegriniCarloC,
pubmed-author:PiccoloGiovanniG,
pubmed-author:PilottoAndreaA,
pubmed-author:PrevitaliStefanoS,
pubmed-author:RepettoAlessandraA,
pubmed-author:ScaffinoManuelaM,
pubmed-author:TavazziLuigiL,
pubmed-author:ViganòMarioM
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
8
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
477-83
|
|
pubmed:dateRevised |
2011-6-8
|
|
pubmed:meshHeading |
pubmed-meshheading:16376610-Adolescent,
pubmed-meshheading:16376610-Adult,
pubmed-meshheading:16376610-Antibodies,
pubmed-meshheading:16376610-Biopsy,
pubmed-meshheading:16376610-Cardiomyopathy, Restrictive,
pubmed-meshheading:16376610-DNA Mutational Analysis,
pubmed-meshheading:16376610-Desmin,
pubmed-meshheading:16376610-Endocardium,
pubmed-meshheading:16376610-Female,
pubmed-meshheading:16376610-Heart Block,
pubmed-meshheading:16376610-Humans,
pubmed-meshheading:16376610-Male,
pubmed-meshheading:16376610-Middle Aged,
pubmed-meshheading:16376610-Mutation,
pubmed-meshheading:16376610-Myocardium,
pubmed-meshheading:16376610-Pedigree,
pubmed-meshheading:16376610-Phenotype,
pubmed-meshheading:16376610-Sequence Analysis,
pubmed-meshheading:16376610-alpha-Crystallin B Chain
|
|
pubmed:year |
2006
|
|
pubmed:articleTitle |
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
|
|
pubmed:affiliation |
Molecular Diagnostic Laboratory, I.R.C.C.S. Policlinico San Matteo, Pavia, Italy. e.arbustini@smatteo.pv.it
|
|
pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|
