Garcia-Diaz B et al. Infantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation. Am J Hum Genet. 2012;91(4):729-36. PMID: 23022099.
Janer A et al. An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect. Am J Hum Genet. 2012;91(4):737-43. PIMD: 23022098.
Janer A et al. RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement. Eur J Hum Genet. 2015;23(10):1301-7. PIMD: 25604853.
Ng YS et al. The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease. J Med Gnet, 2016 Nov;53(11):768-775. PMID: 27412952.
Rioux AV et al. The ever wider clinical spectrum of RMND1-related disorders and limitedness of phenotype-based classifications. J Mol Med (Berl). 2023;101(10):1229-1236. PMID: 37584739.
Shayota BJ et al. Characterization of the renal phenotype in RMND1-related mitochondrial disease. Mol Genet Genomic Med. 2019;7(12):e973. PMID: 31568715.
RMND1