Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin

Journal of Pediatrics

Volumn 130, Issue 1, 1997, Pages 138-145

  Ogle, R F ^a   Christodoulou, J ^a   Fagan, E ^a   Blok, R B ^a   Kirby, D M ^a   Seller, K L ^a   Dahl, H H M ^a   Thorburn, D R ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

CARNITINE; CYTOSINE; FLAVINE MONONUCLEOTIDE; LEUCINE TRANSFER RNA; MITOCHONDRIAL DNA; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); RIBOFLAVIN; THYMINE;

ARTICLE; CASE REPORT; CHILD; ENZYME ACTIVITY; ENZYME DEFICIENCY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MITOCHONDRIAL MYOPATHY; MITOCHONDRIAL RESPIRATION; MUSCLE BIOPSY; MUSCLE MITOCHONDRION; NUCLEIC ACID BASE SUBSTITUTION; PERCEPTION DEAFNESS; PRIORITY JOURNAL; QUADRICEPS FEMORIS MUSCLE; RESPIRATORY CHAIN; SUDDEN INFANT DEATH SYNDROME;

EID: 0030730874     PISSN: 00223476     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0022-3476(97)70323-8     Document Type: Article

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