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
Auteur(s)
Ciafaloni E., Santorelli F.M., Shanske S., Deonna T., Roulet E., Janzer C., Pescia G., DiMauro S.
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
Données d'usage