SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Centronuclear myopathies (CNMs) are characterized by muscle weakness and increased numbers of central nuclei within myofibers. X-linked myotubular myopathy, the most common severe form of CNM, is caused by mutations in MTM1, encoding myotubularin (MTM1), a lipid phosphatase. To increase our understa...

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Bibliografiske detaljer
Main Authors: Agrawal, Pankaj B., Pierson, Christopher R., Joshi, Mugdha, Liu, Xiaoli, Ravenscroft, Gianina, Moghadaszadeh, Behzad, Talabere, Tiffany, Viola, Marissa, Swanson, Lindsay C., Haliloğlu, Göknur, Talim, Beril, Yau, Kyle S., Allcock, Richard J.N., Laing, Nigel G., Perrella, Mark A., Beggs, Alan H.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2014
Fag:
Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4129406/
https://ncbi.nlm.nih.gov/pubmed/25087613
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2014.07.004
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