Human Genetics

, Volume 97, Issue 5, pp 693–694

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

Rapid Communication

DOI: 10.1007/BF02281886

Cite this article as:
Yamada, T. & Kobayashi, T. Hum Genet (1996) 97: 693. doi:10.1007/BF02281886


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.

Copyright information

© Springer-Verlag 1996

Authors and Affiliations

  1. 1.Department of Neurology, Neurological Institute, Faculty of MedicineKyushu University 60FukuokaJapan