title: 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: Instituto de Genética Médica, Jacinto de Magalhães, Praça Pedro Nunes, 88, 4099-028 Porto, Portugal.
authors: Célia
authors: C
authors: Nogueira
authors: João
authors: J
authors: Nunes
authors: Teresinha
authors: T
authors: Evangelista
authors: Fabiana
authors: F
authors: Fattori
authors: Alessandra
authors: A
authors: Tessa
authors: Cristina
authors: C
authors: Pereira
authors: Filippo M
authors: FM
authors: Santorelli
authors: Laura
authors: L
authors: Vilarinho
mesh_terms: 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*
chemical_list: D004272:DNA, Mitochondrial; D012352:RNA, Transfer, Glu