Clinical and molecular features of encephalomyopathy due to the A3302G mutation in the mitochondrial tRNALeu(UUR) gene

Archives of Neurology

Volumn 62, Issue 12, 2005, Pages 1920-1923

  Hutchison, Wendy M ^a   Thyagarajan, Dominic ^c   Poulton, Joanna ^d   Marchington, David R ^d   Kirby, Denise M ^a   Manji, Shehnaaz S M ^a   Dahl, Hans Henrik M ^a,b  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c FLINDERS MEDICAL CENTRE   (Australia)

^d JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MITOCHONDRIAL DNA; TRANSFER RNA;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CLINICAL FEATURE; DEPRESSION; DNA DETERMINATION; DNA SEQUENCE; EXTERNAL OPHTHALMOPLEGIA; GENE MUTATION; HEADACHE; HEARING LOSS; HUMAN; MALE; MITOCHONDRIAL MYOPATHY; MOLECULAR GENETICS; MUSCLE EXERCISE; MUSCLE WEAKNESS; ONSET AGE; PRIORITY JOURNAL; PTOSIS; RESPIRATORY CHAIN;

ADULT; BRAIN; DEPRESSIVE DISORDER; DNA MUTATIONAL ANALYSIS; ELECTRON TRANSPORT; EXERCISE TOLERANCE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC SCREENING; HEADACHE; HEARING LOSS; HUMANS; MALE; MITOCHONDRIAL ENCEPHALOMYOPATHIES; MUSCLE, SKELETAL; MUTATION; OCULAR MOTILITY DISORDERS; REFLEX, ABNORMAL; RNA; RNA, TRANSFER, LEU;

EID: 28944441099     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.62.12.1920     Document Type: Article

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