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Sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy

OBJECTIVE: To investigate whether sarcomeric dysfunction contributes to muscle weakness in facioscapulohumeral muscular dystrophy (FSHD). METHODS: Sarcomeric function was evaluated by contractile studies on demembranated single muscle fibers obtained from quadriceps muscle biopsies of 4 patients wit...

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Autors principals: Lassche, Saskia, Stienen, Ger J.M., Irving, Tom C., van der Maarel, Silvère M., Voermans, Nicol C., Padberg, George W., Granzier, Henk, van Engelen, Baziel G.M., Ottenheijm, Coen A.C.
Format: Artigo
Idioma:Inglês
Publicat: Lippincott Williams & Wilkins 2013
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Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3589299/
https://ncbi.nlm.nih.gov/pubmed/23365058
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0b013e318282513b
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