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. 2021 Jun;7(3):a006081. doi: 10.1101/mcs.a006081

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© 2021 Moss et al.; Published by Cold Spring Harbor Laboratory Press

This article is distributed under the terms of the Creative Commons Attribution-NonCommercial License, which permits reuse and redistribution, except for commercial purposes, provided that the original author and source are credited.

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Figure 1. — Family history and confirmation of AIFM1 sequence variants. (A) Pedigree of the family showing the two affected brothers, the carrier mother, and the affected maternal uncle. (B) Sequence traces from the Sanger confirmation of the two affected brothers and the carrier mother. (C) Depiction of the different conserved domains in the AIFM1 protein and the location of different missense variants in the first flavin adenine dinucleotide (FAD) domain. (MLS) mitochondrial localization sequence, (IMS) intermembrane space, (NADH) nicotinamide adenine dinucleotide.