Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita

Détails

ID Serval
serval:BIB_7C12F0706487
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
Titre
Ragged-red fibers and complex I deficiency in a neonate with arthrogryposis congenita
Périodique
Pediatric Neurology
Auteur(s)
Laubscher  B., Janzer  R. C., Krahenbuhl  S., Hirt  L., Deonna  T.
ISSN
0887-8994 (Print)
Statut éditorial
Publié
Date de publication
10/1997
Peer-reviewed
Oui
Volume
17
Numéro
3
Pages
249-51
Notes
Case Reports Journal Article --- Old month value: Oct
Résumé
We describe a neonate with hypotonia, weakness, early death owing to respiratory failure, and a severe form of arthrogryposis multiplex congenita. Postmortem studies revealed numerous ragged-red fibers and central nervous system abnormalities consistent with a mitochondrial disease. No NADH:ubiquinone-1 oxidoreductase (complex I) activity could be detected in skeletal muscle. These findings suggest that mitochondrial cytopathies can be associated with arthrogryposis multiplex congenita and should therefore be sought in neonates presenting with severe arthrogryposis.
Mots-clé
Arthrogryposis/*pathology/physiopathology Humans Infant, Newborn Male Mitochondrial Encephalomyopathies/*pathology/physiopathology NAD(P)H Dehydrogenase (Quinone)/*deficiency
Pubmed
Web of science
Création de la notice
25/01/2008 13:40
Dernière modification de la notice
03/03/2018 18:36
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