Title: | Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia |
Journal : | Brain, 126, 11 |
Authors: | Romero NB, Author ; Monnier N ; Viollet L ; Cortey A ; Chevallay M ; Leroy JP ; Lunardi J ; Fardeau M ; Leroy JP |
Material Type: | Article |
Publication Date: | 2003 |
Size: | p 2341 |
Languages: | English |
Keywords : | akinesia ; autosomal dominant inheritance ; autosomal recessive inheritance ; C-terminal domains ; case studies ; central core disease ; fetuses ; infants ; N-terminal domains |
Pubmed / DOI : | Pubmed : 12937085 / DOI : 10.1093/brain/awg244 |