A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.

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.

• Authors: Célia Nogueira, João Nunes, Teresinha Evangelista, Fabiana Fattori, Alessandra Tessa, Cristina Pereira, Filippo M Santorelli, Laura Vilarinho
• Journal: Mitochondrion (Mitochondrion) Vol. 7 Issue 6 Pg. 396-8 (Dec 2007) ISSN: 1567-7249 [Print] Netherlands
• PMID: 17897888 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• DNA, Mitochondrial
• RNA, Transfer, Glu

Topics

• DNA, Mitochondrial (genetics)
• Female
• Humans
• Middle Aged
• Mitochondrial Encephalomyopathies (genetics)
• Mutation
• RNA, Transfer, Glu (genetics)