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. 2024 Jul 16;24:343. doi: 10.1186/s12890-024-03164-w

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© The Author(s) 2024

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 licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence 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 licence, visit http://creativecommons.org/licenses/by/4.0/. 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 in a credit line to the data.

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Fig. 2 — (a) Family map: dark blue indicates c.13,338 + 5G > C variant carrying DNAH5 gene (NM_001369.2); light blue indicates c.4314delT (p.Asn1438Lysfs*10) variant carrying DNAH5 gene; light green indicates c.337_348dup12 (p.Arg116_Ser117insLeu AlaPheArg) variant carrying MYORG gene (NM_020702.5); (b-h) Sanger sequence diagram: b, the proband carried the DNAH5 variant c.13,338 + 5G > C; c, wild-type at DNAH5 c.13,338 + 5; d, the proband carried the DNAH5 variant c.4314delT (p.Asn1438Lysfs*10); e, wild-type of DNAH5 c.4314; f, MYORG p.Arg116_Ser117insLeuAlaPheArg homozygous mutation; g, MYORG p.Arg116_Ser117insLeu Ala Phe Arg heterozygous mutation; h, wild-type of MYORG