Table 4.

Neurological diseases caused by protein variants involved in mitochondrial import machinery.

Protein name	Pathogenic mutations or changes	Neurological disorders	References
Tom70	p.Thr607Ile p.Ile554Phe	Hypotonia, hyperreflexia, ataxia, dystonia, and white matter abnormalities	Dutta et al. (2020)
	p.Thr265Met, p.Ala582Val	Developmental delay	Wei et al. (2020b)
Tim50	p.Arg217Trp, p.Thr252Met	Intellectual disability and seizure disorder	Shahrour et al. (2017)
	p.Ser112X p.Gly190Ala	Encephalopathy	Reyes et al. (2018)
Tim22	p.Val33Leu, p.Tyr25X	Neuromuscular presentation and persistently elevated CSF	Pacheu-Grau et al. (2018)
Tim8a	p.Met1Leu, p.Met39Argfs26 p.Lys50Glnfs12, p.Gln18X p.Cys66Trp, p.Glu24X p.Val25 × , p.Arg80X p.Met1Ile, p.Cys43Valfs22 p.Gln38 × , p.Leu78Serfs21 p.Glu45del, p.Gln28X	DDON	Tranebjærg et al. (1995), Tranebjærg et al. (2001), Jin et al. (1996), Ujike et al. (2001), Wang et al. (2019), Neighbors et al. (2020), and Song et al. (2021)
Oxa1	p.Ser170Glnfs*18 p.Cys207Phe	Encephalopathy, hypotonia and developmental delay	Thompson et al. (2018)
MPP	p.Arg175Cys, p.Ala201Pro p.Arg175His, p.Val177Gly p.Ile422Thr	Lack of speech Neurodegeneration in Early Childhood	Vögtle et al. (2018)
	p.Ala377Thr, p.Ser96Leu p.Gly515Arg	Cerebellar ataxias	Jobling et al. (2015)
	p.Gly356Ser, p.Ala377Thr	Encephalopathy	Joshi et al. (2016)