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

Combined MRI and 31P-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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Bibliographic Details
Main Authors: Gineste, Charlotte, Le Fur, Yann, Vilmen, Christophe, Le Troter, Arnaud, Pecchi, Emilie, Cozzone, Patrick J., Hardeman, Edna C., Bendahan, David, Gondin, Julien
Format: Online
Language:English
Published: Public Library of Science 2013
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629063/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3629063/

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