Associated Papers
The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
Elson JL et al.
Mitochondrion, 2015
26349026 (PubMed )
Supplement: mmc2.pdf
Leukoencephalopathy with thalamus and brainstem involvement and high lactate 'LTBL' caused by EARS2 mutations.
Steenweg ME et al.
Brain : a Journal of Neurology, 2012
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