Journal article

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

RF Ogle, J Christodoulou, E Fagan, RB Blok, DM Kirby, KL Seller, HHM Dahl, DR Thorburn

The Journal of Pediatrics | MOSBY-ELSEVIER | Published : 1997

DOI: 10.1016/S0022-3476(97)70323-8

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Keywords

Respiratory-Chain
Nad(p)h Dehydrogenase (quinone)
Life Sciences & Biomedicine
Muscle, Skeletal
Gene
Stroke-Like Episodes
Female
Cardiomyopathy
Mitochondrial Myopathies
Pediatrics
Muscle
Nicotinamide
Dna, Mitochondrial
Dehydrogenase
Riboflavin
Pedigree
Carnitine
Rna, Transfer
Infant
Sequence Analysis, Dna
Point Mutation
Nadh-Coq Reductase
Science & Technology
Lactic-Acidosis
Male
Humans
51-Kda Subunit
Child, Preschool