Article
Mutation-specific effects on thin filament length in thin filament myopathy.
Annals of neurology - 1 Jun 2016
Winter Josine M de, Joureau Barbara, Lee Eun-Jeong, Kiss Balázs, Yuen Michaela, Gupta Vandana A, Pappas Christopher T, Gregorio Carol C, Stienen Ger J M, Edvardson Simon, Wallgren-Pettersson Carina, Lehtokari Vilma-Lotta, Pelin Katarina, Malfatti Edoardo, Romero Norma B, Engelen Baziel G van, Voermans Nicol C, Donkervoort Sandra, Bönnemann C G, Clarke Nigel F, Beggs Alan H, Granzier Henk, Ottenheijm Coen A C
Abstract excerpt
OBJECTIVE: 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. METHODS: We investigated the...
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