title: Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
abstract: We report a patient with severe encephalomyopathy and homoplasmic A5814G point mutation in the mitochondrial DNA tRNA gene for cysteine. This mutation had been reported in heteroplasmic condition in patients with different clinical phenotypes. Our results confirm the pathogenicity of the mutation and support the concept that homoplasmic mutations in tRNA genes can be responsible for mitochondrial disorders with variable penetrance. This report also extends the clinical spectrum associated with the A5814G mutation.
authors.affiliation: Dipartimento di Neurologia, IRCCS Oasi Maria SS, Troina, Italy. cscuderi@oasi.en.it
authors.forename: Carmela
authors.initials: C
authors.lastname: Scuderi
authors.forename: Eugenia
authors.initials: E
authors.lastname: Borgione
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Musumeci
authors.forename: Maurizio
authors.initials: M
authors.lastname: Elia
authors.forename: Filippa
authors.initials: F
authors.lastname: Castello
authors.forename: Marco
authors.initials: M
authors.lastname: Fichera
authors.forename: Guido
authors.initials: G
authors.lastname: Davidzon
authors.forename: Salvatore
authors.initials: S
authors.lastname: DiMauro
mesh_terms: D000328:Adult; D005192:Family Health; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D008928:Mitochondria / Q000235:genetics*; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D012350:RNA, Transfer, Cys / Q000235:genetics*
chemical_list: D012350:RNA, Transfer, Cys