title: Different expressions of X-linked cardiomyopathy in monozygotic triplets with Becker's dystrophy.
abstract: 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.
authors: Department of Cardiology, Institute of Internal Medicine, Medical University of Lodz, Poland. chrzanowski@ptkardio.pl
authors: Lukasz
authors: L
authors: Chrzanowski
authors: Jaroslaw D
authors: JD
authors: Kasprzak
authors: Ewa
authors: E
authors: Trzos
authors: Konrad
authors: K
authors: Wasikowski
authors: Jaroslaw
authors: J
authors: Drozdz
authors: Barbara
authors: B
authors: Ryniewicz
authors: Maria
authors: M
authors: Krzeminska-Pakula
mesh_terms: D000328:Adult; D015415:Biomarkers / Q000097:blood; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D003402:Creatine Kinase / Q000097:blood; D052279:Creatine Kinase, MB Form; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000097:blood; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D020022:Genetic Predisposition to Disease / Q000209:etiology / Q000235:genetics; D006333:Heart Failure / Q000175:diagnosis / Q000209:etiology / Q000235:genetics; D006352:Heart Ventricles / Q000000981:diagnostic imaging / Q000503:physiopathology; D006801:Humans; D007527:Isoenzymes / Q000097:blood; D008297:Male; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000209:etiology* / Q000235:genetics; D010641:Phenotype; D012720:Severity of Illness Index; D013318:Stroke Volume / Q000502:physiology; D014310:Triplets; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000209:etiology / Q000235:genetics
chemical_list: D015415:Biomarkers; D016189:Dystrophin; D007527:Isoenzymes; D003402:Creatine Kinase; D052279:Creatine Kinase, MB Form