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. 2022 Mar 30;13:852374. doi: 10.3389/fgene.2022.852374

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Copyright © 2022 Yang, Zhang, Yang, Wei, Hao, Cheng, Wang, Dong and Qian.

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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Clinical characteristics and mutation analysis of the family in this study. (A) Pedigree of the family in this study. Black symbol denotes the proband. (B) Brain MRI results: red arrows show hypointensity in the substantia nigra and globus pallidum along with additional frontotemporal atrophy. (C) Sanger sequencing results of the C19orf12 gene: red arrows indicate the locations of the mutations. (D) C19orf12 variants in the MPAN proband and frequency diagram of protein mutations. The locations of the W112 and D114 sites are indicated via red arrows.