, Volume 97, Issue 5, pp 693-694

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.