Article
The mouse homolog of FRG1, a candidate gene for FSHD, maps proximal to the myodystrophy mutation on chromosome 8.
Mammalian genome : official journal of the International Mammalian Genome Society - 1 Jun 1997
Grewal P K, van Deutekom J C, Mills K A, Lemmers R J, Mathews K D, Frants R R, Hewitt J E
Abstract excerpt
The human autosomal dominant neuromuscular disorder facioscapulohumeral muscular dystrophy (FSHD) is associated with deletions within a complex tandem DNA repeat (D4Z4) on Chromosome (Chr) 4q35. The molecular mechanism underlying this association of FSHD with DNA rearrangements is unknown, and, thus far, no gene has been identified within the repeat. We isolated a gene mapping 100 kb proximal to D4Z4 (FSHD Region...
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