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.
MeSH terms
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Adult
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Biomarkers / blood
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Cardiomyopathy, Dilated / diagnosis*
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Cardiomyopathy, Dilated / etiology*
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Cardiomyopathy, Dilated / genetics
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Creatine Kinase / blood
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Creatine Kinase, MB Form
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Diagnosis, Differential
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Dystrophin / blood
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Echocardiography, Doppler
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Electrocardiography
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Genetic Predisposition to Disease / etiology
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Genetic Predisposition to Disease / genetics
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Heart Failure / diagnosis
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Heart Failure / etiology
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Heart Failure / genetics
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Heart Ventricles / diagnostic imaging
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Heart Ventricles / physiopathology
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Humans
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Isoenzymes / blood
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Male
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Muscle, Skeletal / metabolism
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology
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Muscular Dystrophy, Duchenne / diagnosis*
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Muscular Dystrophy, Duchenne / etiology*
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Muscular Dystrophy, Duchenne / genetics
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Phenotype
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Severity of Illness Index
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Stroke Volume / physiology
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Triplets*
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Ventricular Dysfunction, Left / diagnosis
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Ventricular Dysfunction, Left / etiology
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Ventricular Dysfunction, Left / genetics
Substances
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Biomarkers
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Dystrophin
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Isoenzymes
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Creatine Kinase
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Creatine Kinase, MB Form