Article
SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
American journal of human genetics - 7 Aug 2014
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
Abstract excerpt
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 understanding of MTM1 function, we conducted a yeast two-hybrid screen to identify MTM1-interacting proteins. Striated...
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