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

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