A 400-kb tandem duplication within the dystrophin gene leads to severe Becker muscular dystrophy
- 1 January 1994
- journal article
- case report
- Published by Springer Nature in Zeitschrift für Neurologie
- Vol. 241 (5) , 331-334
- https://doi.org/10.1007/bf00868442
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.Keywords
This publication has 20 references indexed in Scilit:
- Exon Structure of the Human Dystrophin GeneGenomics, 1993
- Brief communication: Becker muscular dystrophy: Detection of unusual disease courses by combined approach to dystrophin analysisMuscle & Nerve, 1992
- Identification of a 220-kb insertion into the Duchenne gene in a family with an atypical course of muscular dystrophyGenomics, 1989
- Mosaic Expression of Dystrophin in Symptomatic Carriers of Duchenne's Muscular DystrophyNew England Journal of Medicine, 1989
- Frame-Shift Deletions in Patients with Duchenne and Becker Muscular DystrophyScience, 1988
- Partial gene duplication in Duchenne and Becker muscular dystrophies.Journal of Medical Genetics, 1988
- Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gelsNature, 1987
- Preferential deletion of exons in Duchenne and Becker muscular dystrophiesNature, 1987
- Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.Journal of Medical Genetics, 1986
- Does unequal crossing over contribute to the mutation rate in Duchenne muscular dystrophy?American Journal of Medical Genetics, 1982