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. 2018 Oct 9;8:14989. doi: 10.1038/s41598-018-33098-3

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© The Author(s) 2018

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as 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 images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Workflow of CNV analyses and breakpoint sequencing for subjects with LAMA2 MD-associated LAMA2 gene CNVs. LAMA2 gene CNVs were identified initially by MLPA assay and were further verified by high-resolution aCGH and next-generation sequencing. The sequence-based CNV structures were investigated comprehensively by CNV breakpoint sequencing.