Facioscapulohumeral muscular dystrophy.
Facioscapulohumeral muscular dystrophy (FSHD) is a dominantly inherited muscular dystrophy with a distinctive clinical presentation. Despite the identification of a causal deletion on chromosome 4q35 over a decade ago, the molecular pathophysiology of FSHD remains unclear. The deleted repeats, though clearly associated with FSHD, do not contain expressed genes. The FSHD-associated deletions must, therefore, influence the expression of one or more genes at a distance from the site of the deletion. Recent studies have suggested potential mechanisms through which such a distant effect could be mediated.
Tawil
Rabi
R
Department of Neurology, University of Rochester School of Medicine and Dentistry, 601 Elmwood Avenue, Box 673, Rochester, NY 14642-8673, USA. rabi_tawil@urmc.rochester.edu
D002874:Chromosome Mapping; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D004252:DNA Mutational Analysis; D017353:Gene Deletion; D005786:Gene Expression Regulation / Q000235:genetics; D006801:Humans; D018482:Muscle, Skeletal / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D020391:Muscular Dystrophy, Facioscapulohumeral / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D018911:Trinucleotide Repeats / Q000235:genetics