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1.
Clemen, C.S.* et al.: The heterozygous R155C VCP mutation: Toxic in humans! Harmless in mice? Biochem. Biophys. Res. Commun. 503, 2770-2777 (2018)
2.
Altmann, J.* et al.: Expanded phenotypic spectrum of the m.8344A>G "MERRF" mutation: Data from the German mitoNET registry. J. Neurol. 263, 961-972 (2016)
3.
Kornblum, C.* et al.: Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat. Genet. 45, 214-219 (2013)