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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Bibliografske podrobnosti
Main Authors: Gineste, Charlotte, Duhamel, Guillaume, Le Fur, Yann, Vilmen, Christophe, Cozzone, Patrick J., Nowak, Kristen J., Bendahan, David, Gondin, Julien
Format: Artigo
Jezik:Inglês
Izdano: Public Library of Science 2013
Teme:
Research Article
Online dostop: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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