Transesophageal echocardiography in the detection and surgical management of a papillary fibroelastoma of the mitral valve causing partial mitral valve obstruction |
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Authors: | MR Thomas AG Jayakrishnan J Desai MJ Monaghan DE Jewitt |
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Affiliation: | Department of Biochemistry, Faculty of Medicine, University of Colombo, Sri Lanka. |
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Abstract: | Duchenne muscular dystrophy (DMD) is an X-chromosome-linked myopathy caused by a defect in the DMD gene. Intragenic deletions appear to be the most common gene defect leading to DMD, and the deletion frequency has been estimated to be 66%. Results of this study using a group of 24 DMD patients of Sri Lankan origin employing the technique of multiplex DNA amplification using the polymerase chain reaction indicated a deletion frequency of 62.5%. Eighty per cent of these deletions were localized in a region of the DMD gene regarded as a 'hot spot' for DMD deletions. Our results are in agreement with the results of other studies carried out on Caucasian populations. |
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