A manifesting carrier of Duchenne muscular dystrophy with severe myocardial symptoms |
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| Authors: | K. Kamakura M. Kawai K. Arahata H. Koizumi K. Watanabe H. Sugita |
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| Affiliation: | (1) Third Department of Internal Medicine, The National Defence Medical College, 3-2 Namiki, Tokorozawa, Saitama, Japan;(2) Department of Neurology, Institute of Brain Research, The University of Tokyo, Tokyo, Japan;(3) Division of Neuromuscular Research, The National Institute of Neuroscience, National Centre of Neurology and Psychiatry, Tokyo, Japan;(4) Tokyo Teishin Hospital, Tokyo, Japan |
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| Abstract: | Summary A 42-year-old so-called manifesting carrier of Duchenne muscular dystrophy (DMD), whose first complaints were severe myocardial symptoms, is described. Immunohistochemical study using anti-dystrophin antiserum and analysis of cloned segments of X chromosome DNA were performed. Her two sons and one of her brothers appear to have had the same disease. She was admitted to hospital complaining of dyspnoea, back pain and palpitations and was first diagnosed as having myocardial infarction. However, this diagnosis was excluded. The echocardiogram showed diffuse abnormalities of myocardial function. Serum enzymes were increased. Minimal weakness and decreased deep tendon reflexes were detected in her left lower extremity. Muscle biopsy revealed a small number of necrotic fibres. Immunohistochemical study using anti-dystrophin antiserum showed a mosaic pattern of the surface membrane. Analysis of cloned segments of X chromosome DNA from the patient and her son showed the XmnI(Asp) alleles of pERT 87-15 and the TaqI alleles of pERT 87-8 in both patients. |
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| Keywords: | Duchenne muscular dystrophy Manifesting carrier Cardiomyopathy Dystrophin |
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