Table 3.
Summary of previously identified human AIFM1 variants
| Variant | Phenotype | Reference |
|---|---|---|
| Arg201del | Severe mitochondrial encephalomyopathy | Ghezzi et al. 2010 |
| Gly338Glu | Early-onset mitochondrial encephalomyopathy | Diodato et al. 2015 |
| Glu493Val | Early-onset axonal sensorimotor neuropathy | Rinaldi et al. 2012 |
| Gly262Ser | Slowly progressive mitochondrial encephalomyopathy | Ardissone et al. 2015 |
| Gly308Glu | Early-onset encephalomyopathy | Berger et al. 2011 |
| Leu344Phe | Auditory neuropathy | Zong et al. 2015 |
| Thr260Ala | Auditory neuropathy | Zong et al. 2015 |
| Arg422Trp | Auditory neuropathy | Zong et al. 2015 |
| Arg422Gln | Auditory neuropathy | Zong et al. 2015 |
| Arg451Gln | Auditory neuropathy | Zong et al. 2015 |