Additional file 3: Figure. S1. of Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

Harris, Elizabeth; Topf, Ana; Barresi, Rita; Hudson, Judith; Powell, Helen; Tellez, James; Hicks, Debbie; Porter, Anna; Bertoli, Marta; Evangelista, Teresinha; Marini-Betollo, Chiara; MagnĂşsson, Ălafur; Lek, Monkol; MacArthur, Daniel; Bushby, Kate; LochmĂźller, Hanns; Straub, Volker

doi:10.6084/m9.figshare.c.3873223_D3.v1

13023_2017_699_MOESM3_ESM.pdf (340.22 kB)

Additional file 3: Figure. S1. of Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

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posted on 2017-09-06, 05:00 authored by 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

Clinical details and muscle biopsy findings in families diagnosed with titinopathies. (PDF 340Â kb)

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Myopathy Limb girdle muscular dystrophy Exome Titinopathy Collagen VI related dystrophy Mosaicism

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Additional file 3: Figure. S1. of Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy

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