A novel emerin mutation in a Japanese patient with Emery-Dreifuss muscular dystrophy.
Sequencing of the STA 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.
Yamada
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Department of Neurology, Neurological Institute, Faculty of Medicine, Kyushu University, Fukuoka, Japan. yamada@neuro.med.kyushu-u.ac.jp
Kobayashi
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D000293:Adolescent; D000595:Amino Acid Sequence; D001482:Base Composition; D001483:Base Sequence; D002648:Child; D017931:DNA Primers; D005091:Exons; D006801:Humans; D007438:Introns; D007564:Japan; D008297:Male; D008565:Membrane Proteins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D009136:Muscular Dystrophies / Q000235:genetics*; D009687:Nuclear Proteins; D016133:Polymerase Chain Reaction; D011487:Protein Conformation; D012016:Reference Values; D017384:Sequence Deletion; D013946:Thymopoietins / Q000737:chemistry / Q000235:genetics*; D014960:X Chromosome
D017931:DNA Primers; D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin