SPEG-deficient skeletal muscles exhibit abnormal triad and defective calcium handling

Centronuclear myopathies (CNM) are a subtype of congenital myopathies (CM) characterized by skeletal muscle weakness and an increase in the number of central myonuclei. We have previously identified three CNM probands, two with associated dilated cardiomyopathy, carrying striated preferentially expr...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Huntoon, Virginia, Widrick, Jeffrey J, Sanchez, Colline, Rosen, Samantha M, Kutchukian, Candice, Cao, Siqi, Pierson, Christopher R, Liu, Xiaoli, Perrella, Mark A, Beggs, Alan H, Jacquemond, Vincent, Agrawal, Pankaj B
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2018
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5905626/
https://ncbi.nlm.nih.gov/pubmed/29474540
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddy068
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