Article
Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy.
Orphanet journal of rare diseases - 6 Sept 2017
Harris Elizabeth, Topf Ana, Barresi Rita, Hudson Judith, Powell Helen, Tellez James, Hicks Debbie, Porter Anna, Bertoli Marta, Evangelista Teresinha, Marini-Betollo Chiara, Magnússon Ólafur, Lek Monkol, MacArthur Daniel, Bushby Kate, Lochmüller Hanns, Straub Volker
Abstract excerpt
BACKGROUND: Limb girdle muscular dystrophies are a group of rare and genetically heterogeneous diseases that share proximal weakness as a common feature; however they are often lacking very specific phenotypic features to allow an accurate differential diagnosis based on the clinical signs only, limiting the diagnostic rate using phenotype driven genetic testing. Next generation sequencing provides an opportunity...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.