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. 2019 Jan 4;6(3):610–614. doi: 10.1002/acn3.717

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© 2019 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals, Inc on behalf of American Neurological Association.

This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc-nd/4.0/ 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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The clinical and genetic data in the SPG73 family. The family tree indicated an autosomal dominant inherited pattern (A, arrow indicates index patient). The chromagram revealed a variant (c.226C>T) in the CPT1C gene (B). The novel variant (red font) caused a premature stop in exon 3 of the CPT1C gene, the reported variant (black font) was also located in the exon 3 (C). CPT1C protein is composed of a small N‐terminal regulatory domain (NRD, 1‐47) and a large catalytic‐terminal domain (171‐803), separated by two transmembrane (TM) domains and a short connecting loop (D).