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Emery‐Dreifuss syndrome and X‐linked muscular dystrophy with contractures: evidence for homogeneity

 

作者: J. Goldblatt,   L. J. Schram,   G. Wallis,   A. Oswald,   P. Beighton,  

 

期刊: Clinical Genetics  （WILEY Available online 1989）
卷期: Volume 35, issue 1  

页码: 1-4

 

ISSN:0009-9163

 

年代: 1989

 

DOI:10.1111/j.1399-0004.1989.tb02898.x

 

出版商: Blackwell Publishing Ltd

 

关键词: gene localisation;molecular genetics;muscular dystrophy;X‐linked inheritance

 

数据来源: WILEY

 

摘要:

We report on a family in which individuals have clinical features of both Emery‐Dreifuss syndrome (EMD) and X‐linked muscular dystrophy with contractures (XLMDC). Molecular studies on this kindred showed linkage between the disorder and probe DXS 52 (St 14) located at Xq28. The gene for conventional EMD has previously been mapped to this region and our molecular findings therefore suggest that EMD and XLMDC represent the phenotypic spectrum of the same mutated gene rather than heterogeneity, as sometimes postula

 

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