The genetics of congenital myopathies
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Publisher
Elsevier
Reference130 articles.
1. Integrity of the network sarcoplasmic reticulum in skeletal muscle requires small ankyrin 1;Ackermann;J Cell Sci,2011
2. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein, cofilin-2;Agrawal;Am J Hum Genet,2007
3. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy;Agrawal;Am J Hum Genet,2014
4. T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase;Al-Qusairi;Proc Natl Acad Sci U S A,2009
5. Prevalence of congenital myopathies in a representative pediatric United States population;Amburgey;Ann Neurol,2011
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