MNRR1, a Biorganellar Regulator of Mitochondria

Table 2

Mutations identified in CHCHD10 associated with neurodegenerative disorders and mitochondrial myopathy.

Mutation	Disease	Reference
Pro12→Ser	ALS	[76]
Arg15→Leu	ALS, motor neuron disease	[72, 75, 79, 81]
His22→Tyr	Behavioural variant FTD	[92]
Pro23→Thr/Ser/Leu	FTLD (T), behavioural variant FTD (S), semantic dementia (L)	[75] (T); [76] (S); [92] (L)
Pro34→Ser	FTD-ALS, ALS	[73, 74, 76]
Ala35→Asp	FTLD, Alzheimer’s disease	[75, 93]
G58→Arg (in cis with Arg15→Ser)	Mitochondrial myopathy	[71]
Ser59→Leu	FTD-ALS, cerebellar ataxia	[68, 73]
Gly66→Val	ALS, LOSMoN/SMAJ, motor neuron disease, CMT2A	[79–82]
Pro80→Leu	ALS	[75, 83, 76]
Gln82→X	Atypical FTD with Parkinsonism	[76]
Tyr92→Cys	ALS	[9]
Pro96→Thr	ALS	[76, 94]
Gln102→His	ALS	[9]
Gln108→X	Atypical FTD and Parkinson’s disease	[84]

Found outside exon 2. Incorrectly assigned mutations in canonical CHCHD10.