A new mtDNA-tRNA(Glu) mutation (14728T>C) presenting a late-onset mitochondrial encephalomyopathy.
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.
Nogueira
Célia
C
Instituto de Genética Médica, Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.
Nunes
João
J
Evangelista
Teresinha
T
Fattori
Fabiana
F
Tessa
Alessandra
A
Pereira
Cristina
C
Santorelli
Filippo M
FM
Vilarinho
Laura
L
D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D006801:Humans; D008875:Middle Aged; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D009154:Mutation; D012352:RNA, Transfer, Glu / Q000235:genetics*
D004272:DNA, Mitochondrial; D012352:RNA, Transfer, Glu