A japanese family carrying a novel mutation in the emery-dreifuss muscular dystrophy gene

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 truncat...

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Veröffentlicht in:Annals of neurology 1997-03, Vol.41 (3), p.399-402
Hauptverfasser: Ichikawa, Yaeko, Watanabe, Masahiko, Kowa, Hisatomo, Murayama, Shigeo, Mizuno, Takehiko, Komuro, Issei, Ishiki, Ryouji, Goto, Jun, Kanazawa, Ichiro
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Sprache:eng
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Zusammenfassung: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.
ISSN:0364-5134
1531-8249
DOI:10.1002/ana.410410316