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. 2019 Apr 19;6:19. doi: 10.1038/s41439-019-0050-1

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© The Author(s) 2019

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

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Fig. 1 — a, b T2-weighted brain magnetic resonance imaging at 1 year of age showing bilateral hyperintensity of the caudate nucleus, putamen, globus pallidus (a) and substantia nigra (b). c A compound heterozygous mutation in ECHS1 in the patient. cDNA clones synthesized from the patient’s mRNA were sequenced. d The amino acid sequences of ECHS1 protein in various vertebrates. The leucine at position 8 and the asparagine at position 59 are highly conserved across species. e Immunoblotting analysis revealed that ECHS1 protein is not detected in the mitochondrial fraction of the patient’s myoblasts. f Enzyme activity of enoyl-CoA hydratase in the mitochondrial fraction of myoblasts is markedly decreased in the patient. Activity levels are expressed as ratios with respect to citrate synthase activity. Error bars indicate standard deviations. *P < 0.01, Student’s t-test. C, control; P, patient