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- W1982147046 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." @default.
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- W1982147046 date "1997-03-01" @default.
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- W1982147046 title "A japanese family carrying a novel mutation in the emery-dreifuss muscular dystrophy gene" @default.
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- W1982147046 doi "https://doi.org/10.1002/ana.410410316" @default.
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