ORIGINAL ARTICLESMaternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)
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Cited by (356)
Cytochrome c oxidase deficiency
2021, Biochimica et Biophysica Acta - BioenergeticsCitation Excerpt :In the last 20 years, many mutations affecting mt-tRNAs have been linked to different forms of mitochondrial diseases that variably affect the activities of the MRC complexes, some typically resulting in variable severity of predominant or exclusive COX deficiency, depending on the levels of heteroplasmy. For instance, mutations in mt-tRNALys ([40,41–46,263]), mt-tRNAAla [47–50], mt-tRNAPhe ([51–53]; Almalki et al., 2014), mt-tRNALeu [54–58], mt-tRNATrp [59–66], mt-tRNAAsp [67] cause respiratory defective phenotypes with COX deficiency. But, as seen above, while the MERRF mutation is clearly and consistently associated with COX deficiency, the same is not true for the m.3243 MELAS mutation, which is rather associated with predominant complex I deficiency.
Clinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations
2020, Annales d'EndocrinologieMitochondrial DNA-related diseases associated with single large-scale deletions and point mutations
2020, The Human Mitochondrial Genome: From Basic Biology to DiseaseMitochondrial Disorders Causing Cardioskeletal Myopathies in Childhood
2017, Cardioskeletal Myopathies in Children and Young Adults