Ontology highlight
ABSTRACT:
SUBMITTER: Petrov A
PROVIDER: S-EPMC1459005 | biostudies-literature | 2006 May
REPOSITORIES: biostudies-literature
Proceedings of the National Academy of Sciences of the United States of America 20060421 18
Fascioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant neuromuscular disorder linked to partial deletion of integral numbers of a 3.3 kb polymorphic repeat, D4Z4, within the subtelomeric region of chromosome 4q. Although the relationship between deletions of D4Z4 and FSHD is well established, how this triggers the disease remains unclear. We have mapped the DNA loop domain containing the D4Z4 repeat cluster in human primary myoblasts and in murine-human hybrids. A nuclear matrix ...[more]