Associated Papers
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.
Ratnaike TE et al.
European Journal of Human Genetics : Ejhg, 2025
Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.
Bacalhau M et al.
Neuromuscular Disorders : Nmd, 2018
29398297 (PubMed )
Supplement: mmc5.xlsx › Folha1
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