Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.: Recessive Mutations in RYR1 Cause CFTD

Abstract : The main histological abnormality in congenital fiber type disproportion (CFTD) is hypotrophy of type 1 (slow twitch) fibers compared to type 2 (fast twitch) fibers. To investigate whether mutations in RYR1 are a cause of CFTD we sequenced RYR1 in seven CFTD families in whom the other known causes of CFTD had been excluded. We identified compound heterozygous changes in the RYR1 gene in four families (five patients), consistent with autosomal recessive inheritance. Three out of five patients had ophthalmoplegia, which may be the most specific clinical indication of mutations in RYR1. Type 1 fibers were at least 50% smaller, on average, than type 2 fibers in all biopsies. Recessive mutations in RYR1 are a relatively common cause of CFTD and can be associated with extreme fiber size disproportion.
Type de document :
Article dans une revue
Human Mutation, Wiley, 2010, 31 (7), pp.E1544-50. 〈10.1002/humu.21278〉
Liste complète des métadonnées

Littérature citée [16 références]  Voir  Masquer  Télécharger

http://www.hal.inserm.fr/inserm-00588144
Contributeur : Nathalie Roux-Buisson <>
Soumis le : mercredi 13 juillet 2011 - 13:20:46
Dernière modification le : jeudi 1 février 2018 - 01:12:04
Document(s) archivé(s) le : samedi 3 décembre 2016 - 19:35:56

Fichier

 Accès restreint
Fichier visible le : jamais

Connectez-vous pour demander l'accès au fichier

Identifiants

Collections

U836 | UGA

Citation

Nigel Clarke, Leigh Waddell, Sandra Cooper, Margaret Perry, Robert Smith, et al.. Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.: Recessive Mutations in RYR1 Cause CFTD. Human Mutation, Wiley, 2010, 31 (7), pp.E1544-50. 〈10.1002/humu.21278〉. 〈inserm-00588144〉

Partager

Métriques

Consultations de la notice

81