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. 2017 Sep 6;12:151. doi: 10.1186/s13023-017-0699-9

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© The Author(s). 2017

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Fig. 2 — Diagnoses made by standard testing (a) and by WES (b). COL6-RD – Collagen VI related dystrophy, LAMA2 MD –LAMA2 related muscular dystrophy, TAM – Tubular Aggregate Myopathy, IBMPFTD – Inclusion Body Myopathy with Pagets disease and Frontotemporal Dementia