Journal article

Leigh syndrome: Clinical features and biochemical and DNA abnormalities

S Rahman, RB Blok, HHM Dahl, DM Danks, DM Kirby, CW Chow, J Christodoulou, DR Thorburn

Annals of Neurology | LITTLE BROWN CO | Published : 1996

DOI: 10.1002/ana.410390311

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Keywords

Infant, Newborn
Pyruvate Dehydrogenase Complex Deficiency Disease
X Chromosome
Neurosciences & Neurology
Child, Preschool
Mitochondrial-Dna
Chromosome Disorders
Female
Infant
Diagnosis, Differential
Liver
Life Sciences & Biomedicine
Mutation
Pyruvate Dehydrogenase Complex
Merrf
Male
Respiratory-Chain
Science & Technology
Humans
Child
Consanguinity
Point Mutation
Muscle, Skeletal
Disease
Clinical Neurology
Dna, Mitochondrial
Brain
Leigh Disease
Lactates
Chromosome Aberrations
Gene
Gene Expression
Magnetic Resonance Imaging
Neurosciences
Subacute Necrotizing Encephalopathy
Tomography, X-Ray Computed
C Oxidase Deficiency
E1-Alpha Subunit
Human Pyruvate-Dehydrogenase