Article
Large scale genotype-phenotype analyses indicate that novel prognostic tools are required for families with facioscapulohumeral muscular dystrophy.
Brain : a journal of neurology - 1 Nov 2013
Ricci Giulia, Scionti Isabella, Sera Francesco, Govi Monica, D'Amico Roberto, Frambolli Ilaria, Mele Fabiano, Filosto Massimiliano, Vercelli Liliana, Ruggiero Lucia, Berardinelli Angela, Angelini Corrado, Antonini Giovanni, Bucci Elisabetta, Cao Michelangelo, Daolio Jessica, Di Muzio Antonio, Di Leo Rita, Galluzzi Giuliana, Iannaccone Elisabetta, Maggi Lorenzo, Maruotti Valerio, Moggio Maurizio, Mongini Tiziana, Morandi Lucia, Nikolic Ana, Pastorello Ebe, Ricci Enzo, Rodolico Carmelo, Santoro Lucio, Servida Maura, Siciliano Gabriele, Tomelleri Giuliano, Tupler Rossella
Abstract excerpt
Facioscapulohumeral muscular dystrophy has been genetically linked to reduced numbers (≤ 8) of D4Z4 repeats at 4q35 combined with 4A(159/161/168) DUX4 polyadenylation signal haplotype. However, we have recently reported that 1.3% of healthy individuals carry this molecular signature and 19% of subjects affected by facioscapulohumeral muscular dystrophy do not carry alleles with eight or fewer D4Z4 repeats....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.