Title: | Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression |
Journal : | Neuromuscular disorders : NMD, 3, 5-6 |
Authors: | Romero NB, Author ; Nivoche Y ; Lunardi J ; Bruneau B ; Cheval MA ; Hillaire D ; Fardeau M |
Material Type: | Article |
Publication Date: | 1993 |
Size: | p 547 |
Languages: | English |
Keywords : | associated diseases ; case studies ; central core disease ; chromosome 19 ; family ; family trees ; genetic analysis ; histoenzymology ; intrafamilial variations ; malignant hyperthermia ; muscle biopsies ; muscle histopathology ; RYR1 gene |
Pubmed / DOI : | Pubmed : 8186709 |