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Your search keyword '"Bettecken, T."' showing total 2 results
Start Over Author "Bettecken, T." Journal journal of neurology
2 results on '"Bettecken, T."'

2. A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy

Author

Ralf Gold, Bettecken T, Heinz Reichmann, Wolfram Kress, and Clemens R. Müller

Subjects
Adult, Electrophoresis, Male, Biology, Muscular Dystrophies, Dystrophin, Exon, Gene duplication, medicine, Humans, Muscular dystrophy, Gene, Southern blot, Repetitive Sequences, Nucleic Acid, Genetics, DNA, Exons, medicine.disease, Phenotype, Immunohistochemistry, Blotting, Southern, Neurology, Multigene Family, biology.protein, Female, Neurology (clinical), Tandem exon duplication
Abstract

We describe a family with a large duplication of exons 2–16 of the dystrophin gene. It was characterized by immunocytochemistry, field-inversion gel electrophoresis and quantitative Southern blots. Our observations are of clinical interest in that they demonstrate an intermediate disease course despite a disrupted reading frame of dystrophin as postulated from exon-intron boundaries. We discuss possible mechanisms which may explain the unusual phenotype in our patient.

Published
1994

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