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. 2018 Sep 5;18(5):4271–4280. doi: 10.3892/mmr.2018.9455

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Copyright: © Lin et al.

This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.

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Figure 2. — (A) Heterozygous p.E82K (c.244G>A) mutation in LMNA was identified in the proband. (B) Sequencing of wild type LMNA. (C) Heterozygous p.F182L (c.546C>G) mutation in KCNQ4 identified in the proband. (D) sequencing of wild type KCNQ4. (E) Heterozygous p.G426S (c.1276G>A) mutation in EYA1 was identified in the proband. (F) Sequencing of wild type EYA1. Arrows indicate mutation sites. LMNA, lamins A/C; KCNQ4, potassium voltage-gated channel subfamily KQT; EYA1, EYA transcriptional coactivator and phosphatase 1.