The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome

Journal of Neurology Neurosurgery and Psychiatry

Volumn 61, Issue 1, 1996, Pages 47-51

  Fabrizi, Gian Maria ^a   Cardaioli, Elena ^a   Grieco, Gaetano Salvatore ^a   Cavallaro, Tiziana ^b   Malandrini, Alessandro ^a   Manneschi, Letizia ^a   Dotti, Maria Teresa ^a   Federico, Antonio ^a   Guazzi, Giancarlo ^a  

^a UNIVERSITY OF SIENA   (Italy)

^b UNIVERSITY OF VERONA   (Italy)

Author keywords

MELAS; MERRF; Mitochondrial DNA

Indexed keywords

CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; MITOCHONDRIAL RNA; SUCCINATE DEHYDROGENASE;

ADULT; ARTICLE; BIOCHEMISTRY; BRAIN ATROPHY; CASE REPORT; FAHR DISEASE; GENOTYPE; GOITER; HUMAN; LIPOMA; MALE; MELAS SYNDROME; MERRF SYNDROME; MOLECULAR GENETICS; MORPHOLOGY; MUSCLE BIOPSY; NEURORADIOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AUTORADIOGRAPHY; BRAIN; DNA, MITOCHONDRIAL; FEMALE; GENOTYPE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MELAS SYNDROME; MERRF SYNDROME; MUSCLE, SKELETAL; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; RNA, TRANSFER, LEU; SPECTROPHOTOMETRY;

EID: 0030015798     PISSN: 00223050     EISSN: None     Source Type: Journal    
DOI: 10.1136/jnnp.61.1.47     Document Type: Article

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