title: Autosomal recessive lethal infantile cytochrome C oxidase deficiency.
abstract: Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months. Cytochrome c oxidase was markedly reduced in skeletal muscle extracts of all three. Three other children of the same family with most probably the same metabolic aberration are also described. We suggest an autosomal recessive inheritance for this lethal mitochondrial myopathy.
authors.affiliation: Pediatric Division, Assaf Harofeh Medical Center, Sackler School of Medicine, Tel Aviv, Israel.
authors.forename: G
authors.initials: G
authors.lastname: Eshel
authors.forename: E
authors.initials: E
authors.lastname: Lahat
authors.forename: K
authors.initials: K
authors.lastname: Fried
authors.forename: J
authors.initials: J
authors.lastname: Barr
authors.forename: V
authors.initials: V
authors.lastname: Barash
authors.forename: A
authors.initials: A
authors.lastname: Gutman
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: M
authors.initials: M
authors.lastname: Aladjem
mesh_terms: D000141:Acidosis, Renal Tubular / Q000235:genetics; D002675:Child, Preschool; D003241:Consanguinity; D030401:Cytochrome-c Oxidase Deficiency; D003576:Electron Transport Complex IV / Q000235:genetics; D005183:Failure to Thrive / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D007773:Lactates / Q000097:blood; D019344:Lactic Acid; D008297:Male; D009123:Muscle Hypotonia / Q000235:genetics; D010375:Pedigree
chemical_list: D007773:Lactates; D019344:Lactic Acid; D003576:Electron Transport Complex IV