Novel mutations in NEB cause abnormal nebulin expression and markedly impaired muscle force generation in severe nemaline myopathy.
Lawlor, Michael, Coen Ottenheijm, Vilma-Lotta Lehtokari, Kiyomi Cho, Katarina Pelin, Carina Wallgren-Pettersson, Henk Granzier, and Alan Beggs. 2011. “Novel Mutations in NEB Cause Abnormal Nebulin Expression and Markedly Impaired Muscle Force Generation in Severe Nemaline Myopathy.”. Skelet Muscle 1 (1): 23.