Maternally inherited Leigh syndrome.
Détails
ID Serval
serval:BIB_23CFAEDF4EBE
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Maternally inherited Leigh syndrome.
Périodique
Journal of Pediatrics
ISSN
0022-3476
Statut éditorial
Publié
Date de publication
1993
Peer-reviewed
Oui
Volume
122
Numéro
3
Pages
419-422
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
Résumé
A 6 1/2-year-old girl had developmental regression, and Leigh syndrome was diagnosed. A second girl born to the same mother after heterologous artificial insemination also lost acquired skills and died at 2 1/2 years of age; neuropathologic examination confirmed the diagnosis of Leigh syndrome. Tissues from both children and from the mother had a point mutation at nucleotide 8993 in the adenosinetriphosphatase 6-gene of mitochondrial DNA. This family illustrates that Leigh syndrome can be transmitted by maternal inheritance.
Mots-clé
Adenosine Triphosphatases/genetics, Child, DNA, Mitochondrial/genetics, Female, Humans, Leigh Disease/genetics, Point Mutation/genetics, Polymerase Chain Reaction, Polymorphism, Restriction Fragment Length
Pubmed
Web of science
Création de la notice
12/01/2010 10:04
Dernière modification de la notice
20/08/2019 14:01