Mutation-specific effects on thin filament length in thin filament myopathy
详细信息 查看全文
- 作者：Josine M. de Winter ; Barbara Joureau ; Eun-Jeong Lee ; Balá ; zs Kiss ; Michaela Yuen ; Vandana A. Gupta ; Christopher T. Pappas ; Carol C. Gregorio ; Ger J. M. Stienen ; Simon Edvardson ; Carina Wallgren-Pettersson ; Vilma-Lotta Lehtokari ; Katarina Pelin ; Edoardo Malfatti ; Norma B. Romero ; Baziel G. van Engelen ; Nicol C. Voermans ; Sandra Donkervoort ; C. G. Bö ; nnemann ; Nigel F. Clarke ; Alan H. Beggs ; Henk Granzier and Coen A. C. Ottenheijm
- 刊名：Annals of Neurology
- 出版年：2016
- 出版时间：June 2016
- 年：2016
- 卷：79
- 期：6
- 页码：959-969
- 全文大小：681K
- ISSN：1531-8249
文摘
Thin filament myopathies are among the most common nondystrophic congenital muscular disorders, and are caused by mutations in genes encoding proteins that are associated with the skeletal muscle thin filament. Mechanisms underlying muscle weakness are poorly understood, but might involve the length of the thin filament, an important determinant of force generation.