Congenital asymmetric distal myopathy with hemifacial weakness caused by a heterozygous large de novo mosaic deletion in nebulin

Lydia Sagath, Vilma‐Lotta Lehtokari, Salla Välipakka, Anna Vihola, Maria Gardberg, Peter Hackman, Katarina Pelin, Manu Jokela, K. Kiiski, Bjarne Udd, Carina Wallgren‐Pettersson