Combined MRI and (31)P-MRS Investigations of the ACTA1(H40Y) Mouse Model of Nemaline Myopathy Show Impaired Muscle Function and Altered Energy Metabolism

Nemaline myopathy (NM) is the most common disease entity among non-dystrophic skeletal muscle congenital diseases. Mutations in the skeletal muscle α-actin gene (ACTA1) account for ∼25% of all NM cases and are the most frequent cause of severe forms of NM. So far, the mechanisms underlying muscle we...

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Bibliografiska uppgifter
Huvudupphovsmän: Gineste, Charlotte, Le Fur, Yann, Vilmen, Christophe, Le Troter, Arnaud, Pecchi, Emilie, Cozzone, Patrick J., Hardeman, Edna C., Bendahan, David, Gondin, Julien
Materialtyp: Artigo
Språk:Inglês
Publicerad: Public Library of Science 2013
Ämnen:
Research Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC3629063/
https://ncbi.nlm.nih.gov/pubmed/23613869
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0061517
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