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A novel mutation in the mitochondrial tRNA for tryptophan causing a late-onset mitochondrial encephalomyopathy
Acta Neurologica Scandinavica, 09/18/09
Sanaker PS et al. – The 5556G > C mutation appears sporadic. It was not found in any of the family members tested, although some of them manifested disorders that can be associated with mtDNA disease. In addition to reporting the eighth mutation in MTTW, the case illustrates the challenges posed when assigning pathogenicity to mtDNA mutations.
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