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A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy

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Abstract

Sequencing of theSTA gene in a patient with Emery-Dreifuss muscular dystrophy showed a 1-bp deletion of C at nucleotide 672 or 673. This deletion causes a frameshift, changing the amino acid sequence (amino acids 206–235) and generating an early stop codon.

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References

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Authors and Affiliations

  1. Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University 60, 812-82, Fukuoka, Japan

    Takeshi Yamada & Takuro Kobayashi

Authors
  1. Takeshi Yamada
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  2. Takuro Kobayashi
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Correspondence to Takeshi Yamada.

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Yamada, T., Kobayashi, T. A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy. Hum Genet 97, 693–694 (1996). https://doi.org/10.1007/BF02281886

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  • DOI: https://doi.org/10.1007/BF02281886

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