Titre:
  • Uncommon Leber Plus Disease Associated With Mitochondrial Mutation m.11778G>A in a Premature Child.
Auteur:Paquay, Stéphanie; Benoit, Valérie; Wetzburger, Catherine; Cordonnier, Monique; Meire, Françoise; Charon, Anne; Roland, Dominik; Coster, Rudy Van; Nassogne, Marie-Cécile; Maystadt, Isabelle
Informations sur la publication:Journal of child neurology
Statut de publication:Publié, 2013-07
Sujet CREF:Sciences bio-médicales et agricoles
Mots-clés:Leber optic neuropathy
Leigh syndrome
oxygen therapy
phenotypic variability
prematurity
MeSH keywords:Adolescent
Aging, Premature -- complications -- genetics
Brain -- pathology
DNA, Mitochondrial -- genetics
Humans
Leber Congenital Amaurosis -- complications -- genetics
Magnetic Resonance Imaging
Male
Mutation -- genetics
Note générale:JOURNAL ARTICLE
SCOPUS: ar.j
Langue:Autre
Identificateurs:urn:issn:0883-0738
info:doi/10.1177/0883073813492895
info:pii/0883073813492895
info:scp/84904658402
info:pmid/23864591