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

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