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. 2019 Apr 1;13(1):110–119. doi: 10.1080/19336950.2019.1600967

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© 2019 The Author(s). Published by Informa UK Limited, trading as Taylor & Francis Group.

This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

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Figure 1. — Pedigree and genetic analysis of Case 1.

(A) Pedigree of Case 1. B/C. Genetic analysis by Sanger test and NGS panel test (containing SCN4A, CLCN1, CACNA1S, KCNJ2 gene). (B) c.2111C > T chr17-62034787 (p.T704M) gene mutation. (C) Normal in chr17-62034787.