Linked Life Data

9243091

Source:http://linkedlifedata.com/resource/pubmed/id/9243091

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1997-9-30
pubmed:abstractText
The muscular dystrophies are a clinically and genetically heterogeneous group of skeletal muscle-wasting diseases that differ widely in their frequency and pattern of cardiac involvement. Myocardial disease manifesting predominantly as cardiomyopathy and congestive heart failure is characteristic of Duchenne and Becker muscular dystrophies and X-linked dilated cardiomyopathy, whereas conduction system abnormalities that cause heart block, arrhythmias, and sudden death are more commonly seen in limb-girdle type 1B, myotonic, and Emery-Dreifuss muscular dystrophies. Primary defects in the mechanical stabilization of the plasma membrane and signal transduction may underlie these two groups of muscular dystrophies. The identification of several new disease genes has yielded additional insights into the pathophysiology of muscular dystrophy. Molecular genetic and biochemical analyses of patient samples now permit accurate diagnosis and genotype-phenotype correlations. Ultimately, this knowledge will provide the foundation for etiology-specific gene therapy.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
0268-4705
pubmed:author
pubmed:issnType
Print
pubmed:volume
12
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
329-43
pubmed:dateRevised
2009-11-19
pubmed:meshHeading
pubmed:year
1997
pubmed:articleTitle
Dystrophies and heart disease.
pubmed:affiliation
Children's Hospital, Boston, MA 02115, USA.
pubmed:publicationType
Journal Article, Review, Research Support, Non-U.S. Gov't