Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2003-11-11
pubmed:abstractText
Cardiac involvement is common in skeletal muscles disorders associated with dystrophin defect. It has been suggested however, that X-linked dilated cardiomyopathies with minimal or absent skeletal disease are distinct entities, resulting from mutations in cardiac-specific regions of dystrophin gene. This study presents a unique observation of phenotypic variability in monozygotic triplets with Becker's muscular dystrophy. The expressions of the disease range from severe peripheral myopathy to severe congestive heart failure. No deletion in dystrophin gene was observed and the mechanisms responsible for selective impairment of morphologically and functionally different muscles in three monozygotic siblings remain unclear.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
1569-5794
pubmed:author
pubmed:issnType
Print
pubmed:volume
19
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
377-80
pubmed:dateRevised
2007-11-15
pubmed:meshHeading
pubmed-meshheading:14609186-Adult, pubmed-meshheading:14609186-Biological Markers, pubmed-meshheading:14609186-Cardiomyopathy, Dilated, pubmed-meshheading:14609186-Creatine Kinase, pubmed-meshheading:14609186-Creatine Kinase, MB Form, pubmed-meshheading:14609186-Diagnosis, Differential, pubmed-meshheading:14609186-Dystrophin, pubmed-meshheading:14609186-Echocardiography, Doppler, pubmed-meshheading:14609186-Electrocardiography, pubmed-meshheading:14609186-Genetic Predisposition to Disease, pubmed-meshheading:14609186-Heart Failure, pubmed-meshheading:14609186-Heart Ventricles, pubmed-meshheading:14609186-Humans, pubmed-meshheading:14609186-Isoenzymes, pubmed-meshheading:14609186-Male, pubmed-meshheading:14609186-Muscle, Skeletal, pubmed-meshheading:14609186-Muscular Dystrophy, Duchenne, pubmed-meshheading:14609186-Phenotype, pubmed-meshheading:14609186-Severity of Illness Index, pubmed-meshheading:14609186-Stroke Volume, pubmed-meshheading:14609186-Triplets, pubmed-meshheading:14609186-Ventricular Dysfunction, Left
pubmed:year
2003
pubmed:articleTitle
Different expressions of X-linked cardiomyopathy in monozygotic triplets with Becker's dystrophy.
pubmed:affiliation
Department of Cardiology, Institute of Internal Medicine, Medical University of Lodz, Poland. chrzanowski@ptkardio.pl
pubmed:publicationType
Journal Article, Case Reports