Titre:
  • A new family with the mitochondrial tRNAGLU gene mutation m.14709T>C presenting with hydrops fetalis
Auteur:Meulemans, Ann; Seneca, Sara; Smet, Joel; De Paepe, Boel; Lissens, Willy; Van Coster, Rudy; Debeer, Anne; De Meirleir, Linda; Jaeken, Jaak
Informations sur la publication:European journal of paediatric neurology, 11, 1, page (17-20)
Statut de publication:Publié, 2007-01
Sujet CREF:Pédiatrie
Neurologie
Mots-clés:Diabetes
Hydrops fetalis
M.14709T>C
Mitochondrial disease
Mitochondrial tRNAGlu
Myopathy
Note générale:SCOPUS: ar.j
Langue:Anglais
Identificateurs:urn:issn:1090-3798
info:doi/10.1016/j.ejpn.2006.10.004
info:pii/S1090379806001620
info:scp/33846178994
info:pmid/17161635