TY - JOUR AU - Harris, Elizabeth AU - Topf, Ana AU - Barresi, Rita AU - Hudson, Judith AU - Powell, Helen AU - Tellez, James AU - Hicks, Debbie AU - Porter, Anna AU - Bertoli, Marta AU - Evangelista, Teresinha AU - Marini-Betollo, Chiara AU - Magnússon, Ólafur AU - Lek, Monkol AU - MacArthur, Daniel AU - Bushby, Kate AU - Lochmüller, Hanns AU - Straub, Volker PY - 2017 DA - 2017/09/06 TI - Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy JO - Orphanet Journal of Rare Diseases SP - 151 VL - 12 IS - 1 AB - 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 to obtain molecular diagnoses for undiagnosed patients, as well as identifying novel genetic causes of muscle diseases. We performed whole exome sequencing (WES) on 104 affected individuals from 75 families in who standard gene by gene testing had not yielded a diagnosis. For comparison we also evaluated the diagnostic rate using sequential gene by gene testing for 91 affected individuals from 84 families over a 2 year period. SN - 1750-1172 UR - https://doi.org/10.1186/s13023-017-0699-9 DO - 10.1186/s13023-017-0699-9 ID - Harris2017 ER -