A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy
Célia Nogueira1, João Nunes, Teresinha Evangelista
1Instituto de Genética Médica, Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.
Mitochondrion
|September 28, 2007
Abstract:
We identified a new mutation in the mtDNA-encoded transfer RNA glutamate gene (tRNAGlu) in a patient presenting with late-onset myopathy. The mutation was nearly homoplasmic in muscle but hardly detectable in peripheral blood. Adding to the list of disease-related mtDNA variants, our findings propose to consider screening of tRNAGlu in cases of late-onset neuromuscular disorders.
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