Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α-actin ( ACTA1) gene

Autor: 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 *
Zdroj: In Neuromuscular Disorders 2001 11(1):35-40
Databáze: ScienceDirect