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. 2018 Nov 7;15(4):943–953. doi: 10.1007/s13311-018-00674-4

Fig. 2.

Fig. 2

Molecular genetics of mitochondrial myopathy. A search of OMIM, ClinVar, and Mitomap from genes causing mitochondrial myopathy yielded 60 genes. Of these, 31 are mitochondrial genes, including 8 protein-encoding and 23 tRNA mutations. The remaining 29 genes are encoded by the nucleus and have a variety of functions, including subunits and assembly factors of the respiratory chain, mtDNA replication and maintenance, mitochondrial shape, mitochondrial translation, transport, proteases, lipid metabolism, and iron sulphur (Fe-S) cluster formation. Due to the speed at which needed genes are identified, this is likely to be an underestimate of causative genes.