Severe encephalomyopathy in a patient with homoplasmic A5814G point mutation in mitochondrial tRNACys gene.
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.
Scuderi
Carmela
C
Dipartimento di Neurologia, IRCCS Oasi Maria SS, Troina, Italy. cscuderi@oasi.en.it
Borgione
Eugenia
E
Musumeci
Sebastiano
S
Elia
Maurizio
M
Castello
Filippa
F
Fichera
Marco
M
Davidzon
Guido
G
DiMauro
Salvatore
S
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*
D012350:RNA, Transfer, Cys