Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
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Author / Creator
Lemmers, Richard J.L.F , van der Vliet, Patrick J , Klooster, Rinse , Sacconi, Sabrina , Camaño, Pilar , Dauwerse, Johannes G , Snider, Lauren , Straasheijm, Kirsten R , Jan van Ommen, Gert , Padberg, George W , Miller, Daniel G , Tapscott, Stephen J , Tawil, Rabi , Frants, Rune R and van der Maarel, Silvère M
Publisher
Washington, DC: American Association for the Advancement of Science
Journal title
Language
English
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Publisher
Washington, DC: American Association for the Advancement of Science
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Scope and Contents
Contents
Facioscapulohumeral muscular dystrophy (FSHD) is a common form of muscular dystrophy in adults that is foremost characterized by progressive wasting of muscles in the upper body. FSHD is associated with contraction of D4Z4 macrosatellite repeats on chromosome 4q35, but this contraction is pathogenic only in certain "permissive" chromosomal backgrou...
Alternative Titles
Full title
Unifying Genetic Model for Facioscapulohumeral Muscular Dystrophy
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4677822
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4677822
Other Identifiers
ISSN
0036-8075
E-ISSN
1095-9203
DOI
10.1126/science.1189044
