Leigh syndrome: Clinical features and biochemical and DNA abnormalities

Annals of Neurology

Volumn 39, Issue 3, 1996, Pages 343-351

  Rahman, S ^a,c   Blok, R B ^a   Dahl, H H M ^a   Danks, D M ^a   Kirby, D M ^a   Chow, C W ^a   Christodoulou, J ^b   Thorburn, D R ^a  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c JOHN RADCLIFFE HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMICAL MARKER; PYRUVATE DEHYDROGENASE;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CLINICAL FEATURE; DNA DAMAGE; ENZYME DEFECT; GENETIC COUNSELING; HUMAN; HUMAN TISSUE; LEIGH DISEASE; POINT MUTATION; PRIORITY JOURNAL; RESPIRATORY CHAIN; X CHROMOSOMAL INHERITANCE;

BRAIN; CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CONSANGUINITY; DIAGNOSIS, DIFFERENTIAL; DNA, MITOCHONDRIAL; FEMALE; GENE EXPRESSION; HUMANS; INFANT; INFANT, NEWBORN; LACTATES; LEIGH DISEASE; LIVER; MAGNETIC RESONANCE IMAGING; MALE; MUSCLE, SKELETAL; POINT MUTATION; PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY DISEASE; TOMOGRAPHY, X-RAY COMPUTED; X CHROMOSOME;

EID: 0029985716     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410390311     Document Type: Article

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