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. 2021 Sep 13;93(1):48–56. doi: 10.1136/jnnp-2021-327186

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© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution 4.0 Unported (CC BY 4.0) license, which permits others to copy, redistribute, remix, transform and build upon this work for any purpose, provided the original work is properly cited, a link to the licence is given, and indication of whether changes were made. See: https://creativecommons.org/licenses/by/4.0/.

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Topology of NEFH variants in relation to the protein domains and transcript and the frameshift to an alternate open reading frame. (A, panel above) Schematic representation of the NEFH protein and the corresponding RefSeq transcript. All variants in this study were in the tail domain of NEFH, which is coded for by exon 4. (B, panel below) Electropherogram obtained from the Sanger confirmation of two of the NEFH variants and illustration how both frameshift variants, c.3010_3011delGA (black arrow) and c.3017dup (red arrow), change the wild-type ORF3 to the alternate ORF2. KSP, lysine-serine-proline; ORF, open reading frame.