- Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene. Jungbluth, H., Sewry, C.A., Brown, S.C., Nowak, K.J., Laing, N.G., Wallgren-Pettersson, C., Pelin, K., Manzur, A.Y., Mercuri, E., Dubowitz, V., Muntoni, F. Neuromuscul. Disord. (2001)