Mutations in the skeletal muscle α-actin gene in patients with actin myopathy and nemaline myopathyNigel G. Laing, Duangrurdee Wattanasirichaigoon, Hans H. Goebel et al.|Nature Genetics|1999Cited by 401
Nemaline myopathy: A clinical study of 143 casesMonique M. Ryan, Kathryn N. North, Christina Schnell et al.|Annals of Neurology|2001Cited by 275
Recessive truncating titin gene, <i>TTN</i> , mutations presenting as centronuclear myopathyOzge Ceyhan‐Birsoy, Alan H. Beggs, Pankaj B. Agrawal et al.|Neurology|2013Cited by 217
Structural and Functional Mutations of the Perlecan Gene Cause Schwartz-Jampel Syndrome, with Myotonic Myopathy and ChondrodysplasiaEri Arikawa‐Hirasawa, Yoshihiko Yamada, Alexander H. Le et al.|The American Journal of Human Genetics|2002Cited by 195
Congenital Titinopathy: Comprehensive characterization and pathogenic insightsEmily C. Oates, Susan T. Iannaccone, Kyle S. Yau et al.|Annals of Neurology|2018Cited by 164