Facioscapulohumeral muscular dystrophy (FSHD) is a relatively common autosomal dominant neuromuscular disorder. The gene for FSHD has recently been assigned to chromosome 4q35. Although abnormal mitochondrial and biochemical changes have been observed in FSHD, the molecular defect is unknown. In add
โฆ LIBER โฆ
Mapping the facioscapulohumeral muscular dystrophy gene is complicated by chromosome 4q35 recombination events
โ Scribed by Tawil, R.; Jacobsen, S.J.; Gilbert, J.; Wijmenga, C.; Mendell, J.R.; Winokur, S.; Altherr, M.R.; Weiffenbach, B.; Dubois, J.; Storvick, D.
- Book ID
- 109916203
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 607 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1061-4036
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
The human skeletal muscle adenine nucleo
โ
Cisca Wijmenga; Sara T. Winokur; George W. Padberg; Mette I. Skraastad; Michael
๐
Article
๐
1993
๐
Springer
๐
English
โ 726 KB
Characterization of a tandemly repeated
โ
Dr. Je Hyeon Lee; Ms. Kanako Goto; Dr. Chie Matsuda; Dr. Kiichi Arahata
๐
Article
๐
1995
๐
John Wiley and Sons
๐
English
โ 769 KB
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