Article
Specific sequence variations within the 4q35 region are associated with facioscapulohumeral muscular dystrophy.
American journal of human genetics - 1 Nov 2007
Lemmers Richard J L F, Wohlgemuth Marielle, van der Gaag Kristiaan J, van der Vliet Patrick J, van Teijlingen Corrie M M, de Knijff Peter, Padberg George W, Frants Rune R, van der Maarel Silvere M
Abstract excerpt
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is mainly characterized by progressive wasting and weakness of the facial, shoulder, and upper-arm muscles. FSHD is caused by contraction of the macrosatellite repeat D4Z4 on chromosome 4q35. The D4Z4 repeat is very polymorphic in length, and D4Z4 rearrangements occur almost exclusively via intrachromosomal gene conversions. Several disease...
Topics
- Alleles
- Base Pairing
- Base Sequence
- Case-Control Studies
- Chromosomes, Human, Pair 4
- Consensus Sequence
- Female
- Genetic Markers
- Haplotypes
- Humans