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Multimodal MRI and (31)P-MRS Investigations of the ACTA1(Asp286Gly) Mouse Model of Nemaline Myopathy Provide Evidence of Impaired In Vivo Muscle Function, Altered Muscle Structure and Disturbed Energy Metabolism

Nemaline myopathy (NM), the most common non-dystrophic congenital disease of skeletal muscle, can be caused by mutations in the skeletal muscle α-actin gene (ACTA1) (~25% of all NM cases and up to 50% of severe forms of NM). Muscle function of the recently generated transgenic mouse model carrying t...

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Главные авторы: Gineste, Charlotte, Duhamel, Guillaume, Le Fur, Yann, Vilmen, Christophe, Cozzone, Patrick J., Nowak, Kristen J., Bendahan, David, Gondin, Julien
Формат: Artigo
Язык:Inglês
Опубликовано: Public Library of Science 2013
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Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC3748127/
https://ncbi.nlm.nih.gov/pubmed/23977274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0072294
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