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A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene.

作者信息

Ichikawa Y, Watanabe M, Kowa H, Murayama S, Mizuno T, Komuro I, Ishiki R, Goto J, Kanazawa I

机构信息

Department of Neurology, Faculty of Medicine, University of Tokyo, Japan.

出版信息

Ann Neurol. 1997 Mar;41(3):399-402. doi: 10.1002/ana.410410316.

DOI:10.1002/ana.410410316
PMID:9066362
Abstract

We report on a Japanese family affected by Emery-Dreifuss muscular dystrophy carrying a novel mutation of the emerin (STA) gene. The cardinal clinical feature of the family was cardiac conduction block and mild myopathy. A deletion of 11 bp with a frameshift was identified in exon 6, causing truncation of the predicted protein. The relationship between mutation and phenotype is discussed.

摘要

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