一名患有DMD基因一个外显子遗传性缺失的正常男性。
A normal male with an inherited deletion of one exon within the DMD gene.
作者信息
Nordenskjöld M, Nicholson L, Edström L, Anvret M, Eiserman M, Slater C, Stolpe L
机构信息
Department of Clinical Genetics, Karolinska Hospital, Stockholm, Sweden.
出版信息
Hum Genet. 1990 Jan;84(2):207-9. doi: 10.1007/BF00208944.
PMID:2404853
Abstract
We describe two brothers with identical inherited deletions of one single exon within the middle of the DMD gene; one brother has Becker muscular dystrophy diagnosed at 11 years of age, whereas the older brother is normal at 18. These results have implications for genetic counselling and prenatal diagnosis in families with Becker muscular dystrophy.
摘要
我们描述了两兄弟，他们在DMD基因中间区域有一个单一外显子的相同遗传性缺失；其中一个兄弟在11岁时被诊断患有贝克型肌营养不良症，而哥哥在18岁时表现正常。这些结果对贝克型肌营养不良症家族的遗传咨询和产前诊断具有重要意义。
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