Title: | An integrated diagnosis strategy for congenital myopathies |
Journal : | PLoS ONE, 8, 6 |
Authors: | Bohm J ; Vasli N ; Malfatti E ; Le Gras S ; Feger C ; Jost B ; Monnier N ; Brocard J ; Karasoy H ; Gérard M ; Walter MC ; Reilich P ; Biancalana V ; Kretz C ; Messaddeq N ; Marty I ; Lunardi J ; Romero NB ; Laporte J |
Material Type: | Article |
Publication Date: | 2013 |
Languages: | English |
Keywords : | clinical variations ; congenital myopathy ; diagnosis ; electron microscopy ; exon ; genetic heterogeneity ; genetic mutations ; histopathology ; muscle biopsies ; NEB gene ; RYR1 gene ; sequencing ; skeletal muscle ; splicing |
Pubmed / DOI : | Pubmed : 23826317 / DOI : 10.1371/journal.pone.0067527 |