Title: | Characterization of recessive RYR1 mutations in core myopathies |
Journal : | Human molecular genetics, 15, 18 |
Authors: | Zhou H ; Yamaguchi N ; Xu L ; Wang Y ; Sewry C ; Jungbluth H ; Zorzato F ; Bertini E ; Muntoni F ; Meissner G ; Treves S |
Material Type: | Article |
Publication Date: | 2006 |
Size: | p. 2791-2803 |
Languages: | English |
Keywords : | autosomal recessive inheritance ; calcium ; central core disease ; family trees ; fibroblasts ; genetic mutations ; ion channels ; molecular genetics ; muscle biopsies ; myotube ; RYR1 gene ; SELENON gene ; skeletal muscle |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retrieve&dopt=AbstractPlus&list_uids=16940308&query_hl=13&itool=pubmed_docsum |