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. 2022 Feb 28;13:843014. doi: 10.3389/fgene.2022.843014

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Copyright © 2022 Boivin and Charlet-Berguerand.

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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CGG repeat expansions cause a spectrum of disease. (A) Identical CGG repeat expansions embedded within the 5′UTR of different genes cause various neurodevelopmental, neuromuscular and neurodegenerative disorders. (B) Brain sections of individuals with FXTAS or NIID show identical p62-or sumo-positive intranuclear inclusions. (C) FXTAS, NIID, OPML, and OPDM may belong to a continuum of neuromuscular and neurodegenerative disorders.