VogelH.Burden of proof in the postmortem diagnosis of mitochondrial disease: Leigh disease. Pediatr Dev Pathol2004;7, DOI: 10.1007/s10024-004-5054-1.
2.
TaylorGP. Neonatal mitochondrial cardiomyopathy. Pediatr Dev Pathol2004;7, DOI: 10.1007/s10024-004-5050-5.
3.
DimmickJ.Conjugated hyperbilirubinemia in infancy (mitochondrial DNA depletion syndrome, liver). Pediatr Dev Pathol2004;7, DOI: 10.1007/s10024-004-5052-3.
4.
Clinical presentation of respiratory chain deficiency. In: ScriverCR, BeaudetAL, ValleD, SlyWS, Eds. The Metabolic and Molecular Bases of Inherited Disease. New York: McGraw-Hill.
5.
WalkerUA, CollinsByrne S.Respiratory chain encephalomyopathies: a diagnostic classification. Eur Neurol1996;36:260–267.
6.
BernierFP, BonehA, DennettX, ChowCW, ClearyMA, ThorburnDR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology2002;59:1406–1411.
7.
BioneS, D'AdamoP, MaestriniE, GedeonAK, BolhuisPA, TonioloD.A novel X-linked gene, G4.5 is responsible for Barth syndrome. Nat Genet1996;12:385–389.
8.
LevD, GiladE, Leshinsky-SilverE, Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency. J Inherit Metab Dis2002;25:371–377.
9.
MorrisAA. Mitochondrial respiratory chain disorders and the liver. Liver1999;19:357–368.
10.
MeranteF, Petrova-BenedictR, MacKayN, A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec. Am J Hum Genet1993;53:481–487.
11.
LeeN, DalyMJ, DelmonteT, A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16. Am J Hum Genet2001;68:397–409.
12.
Cormier-DaireV, ChretienD, RustinP, Neonatal and delayed onset hepatic failure in disorders of oxidative phosphorylation. J Pediatr1997;130:817–822.
13.
FaivreL, Cormier-DaireV, ChretienD, Determination of enzyme activities for prenatal diagnosis of respiratory chain deficiency. Prenat Diagn2000;20:732–737.
14.
MandelH, SzargelR, LabayV, The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA. Nat Genet2001;29:337–341.
15.
SalviatiL, SacconiS, MancusoM, Mitochondrial DNA depletion and dGK gene mutations. Ann Neurol2002;52:311–317.
16.
NaviauxRK, NyhanWL, BarshopBA, Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome. Ann Neurol1999;45:54–58.
17.
JakschM, ParetC, StuckaR, Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts. Hum Mol Genet2001;10:3025–3035.
18.
ValnotI, OsmondS, GigarelN, Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy. Am J Hum Genet2000;67:1104–1109.
19.
BenitP, ChretienD, KadhomN, Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. Am J Hum Genet2001;68:1344–1352.
20.
VallanceHD. A sporadic case of histocytoid cardiomyopathy caused by the 8344 mtDNA mutation. J Inherit Metab Dis2000;23:(suppl 1):146.
21.
MoraesCT, ShanskeS, TritschlerHJ, mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases. Am J Hum Genet1991;48:492–501.
