Chromosome 4q DNA rearrangement in monozygotic twins discordant for facioscapulohumeral muscular dystrophy
โ Scribed by Rabi Tawil; Diane Storvick; Barbara Weiffenbach; Michael R. Altherr; Thomas E. Feasby; Robert C. Griggs
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 229 KB
- Volume
- 2
- Category
- Article
- ISSN
- 1059-7794
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## Abstract A pair of female monozygotic (MZ) twins, heterozygous carriers for a deletion in the DMD gene and discordant for the clinical manifestations of Duchenne muscular dystrophy, were analyzed by molecular studies, in situ hybridization, and methylation pattern of X chromosomes to search for
A 3.3-kb Kpnl repeat unit within the tandem repeat locus (D4Z4) and its upstream 2.5-kb HinclllKpnl fragment of the facioscapulohumeral muscular dystrophy (FSHD) gene region at 4q35-qter were sequenced and characterized. The 3.3-kb Kpnl unit was 3303 bp in length and contained two homeodomain sequen