Different expressions of X-linked cardiomyopathy in monozygotic triplets with Becker's dystrophy.
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.
Chrzanowski
Lukasz
L
Department of Cardiology, Institute of Internal Medicine, Medical University of Lodz, Poland. chrzanowski@ptkardio.pl
Kasprzak
Jaroslaw D
JD
Trzos
Ewa
E
Wasikowski
Konrad
K
Drozdz
Jaroslaw
J
Ryniewicz
Barbara
B
Krzeminska-Pakula
Maria
M
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
D015415:Biomarkers; D016189:Dystrophin; D007527:Isoenzymes; D003402:Creatine Kinase; D052279:Creatine Kinase, MB Form