Title: | Titin mutation segregates with hereditary myopathy with early respiratory failure |
Journal : | Brain, 135, 6 |
Authors: | Pfeffer G ; Elliott HR ; Griffin H ; Barresi R ; Miller J ; Marsh J ; Evila A ; Vihola A ; Hackman P ; Straub V ; Dick DJ ; Horvath R ; Santibanez-Koref M ; Udd B ; Chinnery PF |
Material Type: | Article |
Publication Date: | 2012 |
Size: | p. 1695-1713 |
Languages: | English |
Keywords : | cytoplasmic inclusion bodies ; distal myopathy ; family trees ; genetic mutations ; MRI ; muscle histopathology ; respiratory failure ; sequencing ; titin |
Abstract: |
Accès au résumé PubMed / to PubMed abstract |
Lien associé : | http://www.ncbi.nlm.nih.gov/pubmed/22577215 |
Pubmed / DOI : | DOI : 10.1016/S1474-4422(12)70204-1 |