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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Publicat a:Hum Mol Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2018
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Articles
Accés en línia: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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