Progressive reversion of clinical and molecular phenotype in a child with liver mitochondrial DNA depletion

Journal of Hepatology

Volumn 36, Issue 5, 2002, Pages 698-703

  Ducluzeau, Pierre Henri ^a   Lachaux, Alain ^b   Bouvier, Raymonde ^b   Duborjal, Hervé ^c   Stepien, Georges ^d   Bozon, Dominique ^a   Mousson de Camaret, Bénédicte ^a  

^a HÔPITAL DEBROUSSE   (France)

^b EDOUARD HERRIOT HOSPITAL   (France)

^c Genome Express   (France)

^d ANGERS UNIVERSITY HOSPITAL   (France)

Author keywords

Depletion; Liver fibrosis; Mitochondrial DNA; Revertant phenotype

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; AUTOSOMAL INHERITANCE; CASE REPORT; CLINICAL FEATURE; DISEASE COURSE; HUMAN; HUMAN TISSUE; LIVER BIOPSY; LIVER FAILURE; LIVER FIBROSIS; LIVER FUNCTION; LIVER MITOCHONDRION; LIVER TRANSPLANTATION; MITOCHONDRIAL RESPIRATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTHROMBIN TIME; RESPIRATORY CHAIN; TREATMENT PLANNING;

BIOPSY; CHILD; DNA, MITOCHONDRIAL; ELECTRON TRANSPORT; HUMANS; LIVER CIRRHOSIS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; PHENOTYPE; RECOVERY OF FUNCTION;

EID: 0036257933     PISSN: 01688278     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-8278(02)00021-1     Document Type: Article

References (23)

1. Late-onset mitochondrial DNA depletion: DNA copy number, multiple deletions, and compensation
2. Clinical manifestations of mitochondrial DNA depletion
3. Mitochondrial DNA depletion in a patient with long survival
4. Clinical heterogeneity associated with mitochondrial DNA depletion in muscle
5. mtDNA depletion with variable tissue expression: A novel genetic abnormality in mitochondrial diseases
6. Fatal infantile liver failure associated with mitochondrial DNA depletion
7. Depletion of mitochondrial DNA in the liver of a patient with lactic acidemia and hypoketotic hypoglycemia
8. Depletion of mitochondrial desoxyribonucleic acid in a family with fatal neonatal liver disease
9. Liver failure associated with mitochondrial DNA depletion
10. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA
11. Mutant mitochondrial thymidine kinase in mitochondrial DNA depletion myopathy
12. Depletion of mitochondrial DNA associated with infantile liver cholestasis and progressive fibrosis
13. Nuclear-DNA origin of mitochondrial complex I deficiency in fatal infantile lactic acidosis evidenced by trans-nuclear complementation of cultured fibroblasts
14. Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation
15. Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion
16. Molecular mechanisms in mitochondrial DNA depletion syndrome
17. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
18. Mitochondrial DNA depletion: Prevalence in a pediatric population referred for neurologic evaluation
19. Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures
20. Mitochondrial DNA polymerase γ deficiency and mtDNA depletion in a child with Alpers' syndrome
21. Spontaneous in vivo reversion to normal of an inherited mutation in a patient with adenosine deaminase deficiency
22. Mitochondrial disorders
23. The augmenter of liver regeneration induces mitochondrial gene expression in rat liver and enhances oxidative phosphorylation capacity of liver mitochondria