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. 2019 Sep 11;57(3):178–186. doi: 10.1136/jmedgenet-2019-106108

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© Author(s) (or their employer(s)) 2020. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.

This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

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Pedigree structure of the three consanguineous families (A, B and C) clinically evaluated for this study. Patients with HMNJ are shown as filled symbols and are homozygous for SIGMAR1^N167I. Heterozygous unaffected individuals are depicted with a black dot inside the symbol. Numbered white symbols represent family members that are SIGMAR1^WT homozygous, and unnumbered white symbols show family members of unknown genotype. Purple curved lines are drawn between the same individual.