Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes-phenotypes correlations.
Fiche publication
Date publication
juillet 2024
Journal
Genome medicine
Auteurs
Membres identifiés du Cancéropôle Est :
Pr SCHNEIDER Raphaël
Tous les auteurs :
de Feraudy Y, Vandroux M, Romero NB, Schneider R, Saker S, Boland A, Deleuze JF, Biancalana V, Böhm J, Laporte J
Lien Pubmed
Résumé
Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management. Our objective was to find novel pathogenic variants and genes associated with congenital myopathies and to decrease diagnostic odysseys and dead-end.
Mots clés
Centronuclear myopathy, Congenital myopathy, Core myopathy, Exome sequencing, Genetic diagnosis, Genetic heterogeneity, Myopathy, Nemaline myopathy, Phenotypic heterogeneity, Tubular aggregate myopathy
Référence
Genome Med. 2024 07 9;16(1):87