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. 2016 Sep 1;17(1):61. doi: 10.1186/s12881-016-0326-y

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© The Author(s). 2016

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 — Variant sequencing. a Sanger sequencing of exon 17 in a heterozygous carrier (II:2) verified the presence of the c.3272_3273delCA variant in MYLK and the resulting frameshift. Sequencing was performed using a forward (top) and a reverse (bottom) primer. b Amplification of MYLK from cDNA using primers towards exon 17 and 18 identified only normal sequence in a homozygous non-carrier (II:2) (top) and in a heterozygous carrier (II:5) of the c.3272_3273delCA variant (bottom), thereby confirming nonsense-mediated mRNA decay.