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

Citation metrics

56Web of Science
61Scopus

Keywords

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