Table 4. Mutations in mitochondrial ribosomal proteins and ribosome assembly proteins.

Gene	Protein	Clinical presentation	Age of onset	Mode of inheritance	OMIM	References
MRPL	Mitochondrial ribosomal protein L3	Hypertrophic cardiomyopathy and psychomotor retardation	Infantile	AR	614582	Galmiche et al. (2011) [146]
MRPS16	Mitochondrial ribosomal protein S16	Corpus callosum agenesia, hypothonia, and fatal neonatal lactic acidosis	Neonatal	AR	610498	Miller et al. (2004) [147]
MRPS22	Mitochondrial ribosomal protein S22	Cornelia de Lange-like syndrome Edema, cardiomyopathy and tubulopathy	Neonatal	AR	611719	Saada et al. (2007) [148] Smits et al. (2011) [149]
MRPL44	Mitochondrial ribosomal protein L44	Hypertrophic cardiomyopathy	Neonatal	AR	611849	Carroll et al. (2013) [150] Distelmaier et al. (2015) [151]
MRPL12	Mitochondrial ribosomal protein L12	Growth retardation and neurological deterioration	Neonatal	AR	602375	Serre et al. (2013) [152]
MRPS34	Mitoribosomal ribosomal protein S34	Leigh syndrome and combined OXPHOS defects	Neonatal	AR	611994	Richman et al. (2015) [153] Lake et al. (2017) [154]
ERAL1	mt-rRNA chaperone	Perrault syndrome	Childhood or adult	AR	607435	Newman et al. (2014) [143]

OMIM, Online Mendelian Inheritance in Man; AR, autosomal recessive.