Article
Identification of the first gene (FRG1) from the FSHD region on human chromosome 4q35.
Human molecular genetics - 1 May 1996
van Deutekom J C, Lemmers R J, Grewal P K, van Geel M, Romberg S, Dauwerse H G, Wright T J, Padberg G W, Hofker M H, Hewitt J E, Frants R R
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant, neuromuscular disorder characterized by progressive weakness of muscles in the face, shoulder and upper arm. Deletion of integral copies of a 3.3 kb repeated unit from the subtelomeric region on chromosome 4q35 has been shown to be associated with FSHD. These repeated units which are apparently not transcribed, map very close to the 4q...
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