17. Regional mapping of the facioscapulohumeral muscular dystrophy gene on 4q35: linkage analysis of the International Consortium
โ Scribed by Padberg, G.W.; Wijmenga, C.; Upadhyaya, M.; Weiffenbach, B.; Brouwer, O.F.; Murray, J.; Pericak-Vance, M.; Lunt, P.; Frants, R.R.; Harper, P.S.; Sarfarazi, M.
- Book ID
- 122094756
- Publisher
- Elsevier Science
- Year
- 1992
- Tongue
- English
- Weight
- 137 KB
- Volume
- 94
- Category
- Article
- ISSN
- 0303-8467
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๐ SIMILAR VOLUMES
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
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