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KMID : 0578319920020030357
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Molecules and Cells
1992 Volume.2 No. 3 p.357 ~ p.360
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A Case of Duchenne Muscular Dystrophy with Multiple Exon Deletions
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Song, Kyung Soon
Lee, Chang Hoon/Moon, Jae Ho/Lee, Young Seup/Chang, Young Ho/Park, Young Mok
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Abstract
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Human chromosome X-linked Duchenne muscular dystrophy (DMD) is a serious genetic disorder to which at present there is no effective treatment. Many deletions have previously been shown to disrupt the DMD locus in affected individuals via Southern analysis using DMD cDNA and genomic clones. An alternative to Southern analysis for mutation diagnosis involves the polymerase chain reaction. Twenty six affected individuals were screened for any deletion at 9 deletion-prone regions of the gene. Here is reported a case where all the 9 regions contain deletions, which is considered to be extremely rare.
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