Additional file 1: Table S1. of Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy
Elizabeth Harris
Ana Topf
Rita Barresi
Judith Hudson
Helen Powell
James Tellez
Debbie Hicks
Anna Porter
Marta Bertoli
Teresinha Evangelista
Chiara Marini-Betollo
Ălafur MagnĂşsson
Monkol Lek
Daniel MacArthur
Kate Bushby
Hanns LochmĂźller
Volker Straub
10.6084/m9.figshare.c.3873223_D1.v1
https://springernature.figshare.com/articles/journal_contribution/Additional_file_1_Table_S1_of_Exome_sequences_versus_sequential_gene_testing_in_the_UK_highly_specialised_Service_for_Limb_Girdle_Muscular_Dystrophy/5383282
Summary details of affected individuals included in WES cohort. (PDF 295Â kb)
2017-09-06 05:00:00
Myopathy
Limb girdle muscular dystrophy
Exome
Titinopathy
Collagen VI related dystrophy
Mosaicism