A mitochondrial DNA microdeletion in a newborn girl with transient lactic acidosis

Journal of Inherited Metabolic Disease

Volumn 19, Issue 2, 1996, Pages 115-118

  Seneca, S ^a   Abramowicz, M ^b   Lissens, W ^a   Muller, M F ^b   Vamos, E ^b   De Meirleir, L ^a  

^a UNIVERSITY HOSPITAL BRUSSELS   (Belgium)

^b ERASME HOSPITAL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MESSENGER RNA; MITOCHONDRIAL DNA;

CASE REPORT; CELL ENERGY; CONFERENCE PAPER; DEGENERATIVE DISEASE; FEMALE; FIBROBLAST CULTURE; GENE DELETION; GENE DUPLICATION; GENE EXPRESSION; GENOME; HUMAN; LACTIC ACIDOSIS; LYMPHOCYTE CULTURE; NEWBORN; POINT MUTATION; RESPIRATORY CHAIN; SKIN FIBROBLAST;

ACIDOSIS, LACTIC; BASE SEQUENCE; CELLS, CULTURED; DNA, MITOCHONDRIAL; FEMALE; FIBROBLASTS; GENE DELETION; HUMANS; INFANT, NEWBORN; LYMPHOCYTES; MOLECULAR SEQUENCE DATA; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL;

EID: 0029922899     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF01799407     Document Type: Conference Paper

References (6)

1. Anderson BH, Bankier AT, Barrell BG et al (1981) Sequence and organization of the human mitoehondrial genome. Nature 290: 457-465.
2. De Meirleir L, Seneca S, Lissens W, Schoentjes E, Desprechins B (1995) Bilateral striatal necrosis with a novel point mutation in the mitoehondrial ATPase 6 gene. Pediatr Neurol 13: 242-246.
3. Gérard B, Bourgeron T, Chretien D, Rötig A, Munnich A, Rustin P (1993) Uridine preserves the expression of respiratory enzyme deficiencies in cultured fibroblasts. Eur J Pediatr 152: 270.
4. Kunkel L, Smith K, Boyer S et al (1977) Analysis of human Y-chromosome specific reiterated DNA in chromosome variants. Proc Natl Acad Sci USA 74: 1245-1249.
5. Robinson BH (1995) Lactic acidemia. In: Scriver CR, Beaudet AC, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1479-1499.
6. Schoffner JM, Wallace DC (1995) Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AC, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1535-1609.