Article
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Human molecular genetics - 3 Mar 2022
Lemmers Richard J L F, van der Vliet Patrick J, Granado David San Leon, van der Stoep Nienke, Buermans Henk, van Schendel Robin, Schimmel Joost, de Visser Marianne, van Coster Rudy, Jeanpierre Marc, Laforet Pascal, Upadhyaya Meena, van Engelen Baziel, Sacconi Sabrina, Tawil Rabi, Voermans Nicol C, Rogers Mark, van der Maarel Silvère M
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an inherited myopathy clinically characterized by weakness in the facial, shoulder girdle and upper a muscles. FSHD is caused by chromatin relaxation of the D4Z4 macrosatellite repeat, mostly by a repeat contraction, facilitating ectopic expression of DUX4 in skeletal muscle. Genetic diagnosis for FSHD is generally based on the sizing and haplotyping of the D4Z4...
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