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. 2021 Jul 19;16:319. doi: 10.1186/s13023-021-01950-x

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© The Author(s) 2021

Open AccessThis 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. 4 — Genetic characteristics and genotype–phenotype correlations in LAMA2-related muscular dystrophy. a Six types of disease-causing variants in 218 alleles. b Distribution of 184 allele mutations (except CNVs). c Distribution of missense disease-causing variants in LGMDR23 and LAMA2-CMD. d Nonsense in LAMA2-CMD patients, missense disease-causing variants in LGMDR23 patients, splicing disease-causing variants in ambulatory LAMA2-CMD patients and CNVs in nonsurvivors were more frequent. CNVs copy number variations; Coil laminin helical coiled-coil domain, IV type A laminin IV type A1 or A2, LN laminin N-terminal, LAMA2-CMD LAMA2-related congenital muscular dystrophy, LGMDR23 autosomal recessive limb-girdle muscular dystrophy-23, Splicing splicing disease-causing variant