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 truncation of the predicted protein. The relationship between mutation and phenotype is discussed.
Ichikawa
Y
Y
Department of Neurology, Faculty of Medicine, University of Tokyo, Japan.
Watanabe
M
M
Kowa
H
H
Murayama
S
S
Mizuno
T
T
Komuro
I
I
Ishiki
R
R
Goto
J
J
Kanazawa
I
I
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009687:Nuclear Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013946:Thymopoietins / Q000235:genetics*
D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin