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. 2023 Jun 2;14:1170071. doi: 10.3389/fneur.2023.1170071

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Copyright © 2023 Velardo, Antognozzi, Rimoldi, Pagliarani, Cogiamanian, Barbieri, Corti, Comi and Ronchi.

This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

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Molecular findings in the investigated pedigree. (A) Pedigree of the family. Black symbols indicate the affected probands (patient 1: “P1” and patient 2: “P2”) carrying the described ATP2A1 variants. (B) Gel agarose showing RT-PCR products encompassing exons 1 and 6, obtained by blood extracted cDNA showing, besides the wild-type band, a smaller fragment compatible the skipping of part of the ATP2A1 transcript in the affected siblings and their mother (“mw” indicates the molecular weight). (C) Sequence electropherogram of genomic (gDNA) and complementary (cDNA) DNA products showing the effect of the c.324 + 1G > A variation in the alteration of physiological splicing of ATP2A1. The heterozygous deletion c.2464delC, resulting in the loss of ATP2A1 reading frame, is observed at genomic and cDNA level.