A MELAS/MERRF phenotype associated with the mitochondrial DNA 5521G>A mutation.
Herrero-Martín
Maria Dolores
MD
Ayuso
Teresa
T
Tuñón
Maria Teresa
MT
Martín
Miguel Angel
MA
Ruiz-Pesini
Eduardo
E
Montoya
Julio
J
D002524:Cerebellar Ataxia / Q000150:complications / Q000209:etiology; D004272:DNA, Mitochondrial / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D017241:MELAS Syndrome / Q000150:complications / Q000235:genetics*; D017243:MERRF Syndrome / Q000150:complications / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D002527:Myoclonic Cerebellar Dyssynergia / Q000150:complications / Q000473:pathology; D010641:Phenotype; D017354:Point Mutation / Q000235:genetics*; D055815:Young Adult
D004272:DNA, Mitochondrial